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Paper A - MRCPsych > Neurosciences and genetics > Flashcards

Neurosciences and genetics Flashcards

1
Q

Macroscopic changes in Alzheimer’s

A

1) Cortical Atrophy (hippocampus, parahippocampal gyrus, temporal amygdala esp parietal and frontal lobes)
2) low brain weight
3) ventricular dilation
4) Depigmentation of locus coeruleus

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2
Q

Microscopic changes in Alzheimer’s (5)

A

1) extracellular senile plaques (Beta amyloid plaques in grey matter - made from APP, concentrated in synapses)
2) Intracellular neurofilbillary tangles - hyperphosphorylated tau (a MAP)
3) Gliosis - increases in activated microglia and reactive astrocytes near amyloid plaques
4) Degeneration of the nucleus of Meynert (cholinergic neurones in basal forbrain, specifically in the Substantia innominata)
5) Hirano bodies (in hippocampi) - similar to LB but without ubiquitin (Eosinophilic, football shaped inclusion seen in neurons of the brain - also seen in normal ageing) - composed mainly of ACTIN

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3
Q

Pineal Gland secretes:

A

Melatonin

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4
Q

Macroscopic pathological findings in Huntington’s (3)

A

Frontal atrophy
Marked bilateral atrophy of the caudate and putamen = chorea
Enlarged ventricles

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5
Q

Microscopic pathological findings in Huntington’s (3)

A

Neuronal loss and gliosis in the cortex
Neuronal loss in the striatum
Inclusion bodies in the neurons of the cortex and striatum

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6
Q

Huntington’s genetics and EEG:

A
  • Trinucleotide repeat - CAG, Chrom 4
  • More repeats = more severe illness
  • CAG length is more unstable when inherited from the father
  • shows anticipation

Normal CAG = repeated 27 times. More in Huntingtons

EEG - Flattened trace

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7
Q

Knight’s move inheritance is seen in:

A

X-linked conditions

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8
Q

A phenotype is:

A

An individual’s observable traits. It results from the interaction between the genotype and the environment.

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9
Q

A genotype is

A

an individual’s collection of genes

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10
Q

A haplotype is:

A

a set of DNA variations, or polymorphisms on a chromosome, that tend to be inherited together

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11
Q

A karyotype is:

A

An individual’s collection of chromosomes.
The process of paring, ordering, and visualising the chromosomes is called karyotyping.

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12
Q

Penetrance vs Expressivity

A

Penetrance describes the proportion of a population of individuals who carry a disease-causing allele who express the related disease phenotype.
Penetrance describes ‘how likely’ it is that a condition will develop
examples of conditions with incomplete penetrance include retinoblastoma and Huntington’s disease

Expressivity describes the extent to which a genotype shows its phenotypic expression in an individual.
Expressivity describes the ‘severity’ of the phenotype
a condition with a high level of expressivity is neurofibromatosis

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13
Q

Mitrochondrial inheritance:

A

Males and females affected, but always being maternally inherited
An affected male does not pass on his mitochondria to his children, so all his children will be unaffected

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14
Q

Components of the Basal Ganglia:

A

1) Striatum (caudate, putamen, nucleus accumbens (CPN)
2) Subthalamic nucleus
3) Globus pallidus
4) Substantia nigra (divided into pars compacta and pars reticulate)

(putamen and globus pallidus are collectively referred to as the lenticular nucleus.)

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15
Q

Four main conditions resulting from problems with the BG:

A

1) Huntington’s chorea (caudate nucleus)
2) Wilson’s disease (copper deposition in basal ganglia)
3) Parkinson’s disease (substantia nigra)
4) Hemiballism (subthalamic nucleus)

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16
Q

Sensory Cranial Nerves:

A

1 - Olfactory
2 - Optic
5 - Trigeminal*
7 - Facial*
8 - Vestibulococlear
9 - Glossopharyngeal*
10 - Vagus*

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17
Q

Motor Cranial Nerves:

A

3 - Occulomotor
4 - Trochlear
5 - Trigeminal*
6 - Abducens
7 - Facial*
9 - Glossopharyngeal*
10 - Vagus*
11 - Accessory
12 - Hypoglossal

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18
Q

A young person presenting with atypical psychosis, seizures, and movement abnormalities - diagnosis? 2 main categories?

A

Autoimmune Encephalitis
1) Antibodies against neuronal cell surface/ synaptic receptors
- usually treatable
2) Antibodies against intracellular antigens
- less responsive to treatment, assoc with tumours (ab’s include anti-Hu and anti-ma)

NB: Learn specific abs
(Anti-NMDAR is the most commonly associated)

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19
Q

Small class 1 neurotransmitters include: (1)

A

Acetylcholine

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20
Q

Small class 2 neurotransmitters include: (5) - Amines

A

Dopamine
Histamine
Serotonin
Noreinephrine
Epinephrine

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21
Q

Small class 3 neurotransmitters include: (4) - Amino acids

A

GABA
Glycine
Glutamate
Aspartate

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22
Q

Small class 4 neurotransmitters include: (2)

A

Carbon monoxide
Nitric oxide

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23
Q

Large neurotransmitters include:

A

Endorphins
Neuropeptides
Oxytocin
Cannabinoids
(Large: CONE)

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24
Q

Excitatory neurotransmitters include:

A

Acetylcholine
Epinephrine
Norepinehrine
Dopamine*
Serotonin
Glutamate

GAS DEN

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25
Q

Inhibitory neurotransmitters include:

A

Dopamine*
Glycine
GABA

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26
Q

Ionotropic Receptors:

A

mediates its effect by opening an ion channel on the surface of a cell
short lived effect
specific
rosette shaped

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27
Q

Metabotropic receptors:

A

G-protein coupled - when activated imitates a reaction within the cell.
Longer lasting effects
Diffuse rather than specific effects

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28
Q

What is a Circumventricular Organ?

A

Unique areas of the brain that lack a blood-brain barrier, allowing them to directly interact with substances in the bloodstream. These regions have an endocrine function and play crucial roles in homeostasis by monitoring and responding to changes in body fluid composition.
- midline structures around 3rd and 4th ventricles
- in contact with CSF and blood
- highly permeable capillaries

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29
Q

6 circumventricular organs:

A

3x chemosensory
- Area Postrema (vomiting centre)
- Vascular Organ of Lateral Terminalis
- Subfornical Organ (regulates thirst)

VOLT, SO AP

4x secretory
- Pineal Body
- Posterior pituitary
- Median Eminence
- Subcommisural Organ

SOME PP PB

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30
Q

Blood Brain barrier facts:

A

Endothelial Cells - joined by tight junctions
Lipid soluble and small molecules pass through easily
Water soluble and large molecules do not pass through easily
Fenestrated at the circumventricular organs
Increased permeability when inflamed
Serves to separate the blood from the BECF (brain extracellular fluid)

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31
Q

Lewy Bodies are:

A
  • intracellular protein aggregates primarily composed of alpha-synuclein (in neurones)
  • present particularly in those areas with high concentrations of dopaminergic neurons such as the substantia nigra and basal forebrain
  • accumulation leads to neuronal dysfunction and eventual death, resulting in a decrease in dopamine levels.
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32
Q

Spongiform changes in the cortex - seen in:

A

Prion diseases e.g CJD

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33
Q

Macroscopic changes in LBD (2)

A

1) Cerebral atrophy (but less marked than in Alzheimer’s)
2) Pallor of the substantia nigra and of the locus coeruleus

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34
Q

Microscopic changes in LBD (3)

A

1) Lewy bodies - intracellular deposits consisting mostly of alpha synuclein and get degraded by ubiquitin - NB can also be found in Amygdala in Alzheimer’s
2) Neurofibrillary tangles and senile plaques
3) Neuronal loss and gliosis are usually restricted to brainstem regions, particularly the substantia nigra and locus ceruleus.

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35
Q

3 lobes of the cerebellum

A

Flocculonodular lobe
Anterior lobe
Posterior lobe

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36
Q

3 functional divisions of the cerebellum:

A

1) vestibulocerebellar - balance, spatial orientation
2) Spinocerebellum - fine-tuned body movements
(Vermis and intermediate zones - midline)
3) cerebrocerebellum (lateral hemispheres) - planning movement, conscious assessment of movement

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37
Q

4 anatomical areas of the cerebellum:

A

Vermis - assoc with bodily posture and locomotion
Folia - pleat-like gyri on surface
Arbor Vitae - “tree of life” - cerebellar white matter
Cerebellar peduncles - 3 pairs, used to communicate with the nervous system

AV CP F V

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38
Q

Lesions in Dominant Parietal Lobe (5):

A

1) Gerstmann’s Syndrome - includes agraphia, acalculia, finger agnosia, left-right disorientation
2) Language disorders including aphasia
3) Alexia - inbility to read
4) Anomia - can’t find right word
5) impaired writing and mathematics

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39
Q

Lesions in Non-dominant Parietal Lobe (7):

A

1) Spatial disorientation including limbs
2) Hemispatial neglect on opposite side
3) Prosopagnosia (can’t recognise faces)
4) Constructional Aphasia
5) Dressing Apraxia
6) Topographical disorientation
7) Anosognosia (inability to acknowledge illness)

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40
Q

Kluver-Bucy syndrome

A

Amygdala lesion - bilateral temporal lobes
Hypersexuality, hyperorality, hyperphagia, visual agnosia, blunted affect with apathy

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41
Q

Balint’s Syndrome

A

Bilateral Parieto/Occipital lesion
Can’t direct eyes to specific point in visual field (occulomotor apraxia)
Optic ataxia - difficulty interacting with objects in visual field
Simultanagnosia - can’t perceive multiple objects at once

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42
Q

Variant CJD vs Sporadic CJD (6)

A

Duration:
v - longer, >1 year
S - shorter, months

Symptoms
v - psychiatric and behavioural, later neurology
S - neurological

MRI and EEG
v - Pulvinar sign ( bilaterally hyperintense pulvinar nuclei of the THALAMUS on FLAIR or diffusion-weighted MRI images), generalised slowing on EEG but nothing specific
S - Bilateral anterior basal ganglia high signal, EEG - biphasic and triphasic waves 1-2/sec

Origin and age of onset
v - infected meat products, younger people 25-30
S - genetic mutation, older people 55-65

Note: Detection of 14-3-3- proteins in the CSF is highly specific for CJD and can be particularly helpful in diagnosing sporadic CJD

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43
Q

8 candidate genes for schizophrenia and which chromosome:

A

DISC1 (c.1)
Dysbindin DTNBP1 (c.6)
Neuregulin NRG1 (c.8)
COMT (c.22)

G72 (c.13)
RGS4 (c.1)
DAOA (c.13)
DRD2 (c.11)

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44
Q

COMT in schizophrenia

A
  • Role in dopamine metabolism esp in prefrontal cortex. clears dopamine from synapses
  • Strongest association gene
  • Role in degradation of catecholamines
  • Low activity of COMT = assoc with schiz and OCD
  • Chrom 22 (assoc w/ velocardiofacial disorder - 20% of these patients have psychosis)
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45
Q

Neuregulin in schizophrenia

A
  • NRG1 = growth factor that stimulates neuron development and differentiation
  • Increased neuregulin signaling in schizophrenia may suppress the NMDA receptor, leading to lowered glutamate levels
  • Chromosome 8
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46
Q

Dysbindin in schizophrenia

A
  • Expression decreased in schizophrenia
  • may reduce glutamate levels
  • chromosome 6
  • MOST CONSISTENT CANDIDATE GENE in schizophrenia
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47
Q

DISC 1 in schizophrenia

A
  • DISC1 encodes a multifunctional protein that influences neuronal development and adult brain function
  • Disrupted in schizophrenia
  • Chromosome 1
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48
Q

Define x3 (Affinity, Potency, Efficacy) of drug in relation to receptors

A

1) Affinity - How avidly the drug binds to the receptor
2) Potency - The concentration or dose of a drug required to produce 50% of the drug’s maximal effect. Potency depends on both the affinity of a drug for its receptor, and the efficacy with which drug-receptor interaction is coupled to response
3) Efficacy - Also referred to as ‘intrinsic activity’ of a drug is the ability of the drug to elicit a response when it binds to the receptor

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49
Q

3 genes of importance in EOFAD (Early Onset Familial Alzheimer’s Disease)

A

N.B very rare - only 1-6% Alzheimer’s cases

PSEN-1 - 30-70% (Chrom 14) - most common
APP - 10-15% (Chrom 21)
PSEN-2 5% (Chrom 1)

The presenilins are components of enzymes that cleave APP to produce amyloid beta fragments of different lengths.
Mutations in the presenilins account for the majority of genetic early-onset Alzheimer’s cases.

Autosomal Dominant

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50
Q

Glial cytoplasmic inclusion bodies visible in the CNS, found in Multi-System Atrophy

A

Papp-Lantos Bodies

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51
Q

Large, dark-staining aggregates of proteins in neurological tissue found in FTD

A

Pick Bodies

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52
Q

Round, concentrically laminated, pale eosinophilic cytoplasmic inclusions (aggregates of alpha-synuclein)

A

Lewy Bodies, found in PD and LBD

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53
Q

1) Acidophilic, stellate inclusions in giant cells
2) Concentrically laminated inclusions (up to 50µm) in giant cells

Both found in sarcoidosis and berylliosis

A

1) Asteroid bodies
2) Schaumann cells

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54
Q

Inactivated X chromosome - dark staining mass in contact with the nuclear membrane

A

Barr Bodies

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55
Q

Alcoholic hyalin - eosinophilic intracytoplasmic inclusions in hepatocytes: intermediate filaments, predominantly prekeratin

A

Mallory Bodies - found in alcoholic hepatitis, alcoholic cirrhosis, Wilson’s disease, primary-biliary cirrhosis

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56
Q

Palisaded lamellated membranous cytoplasmic bodies seen in macrophages

A

Zebra bodies - Niemann-Pick disease, Tay-Sachs disease, or any of the mucopolysaccharidoses

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57
Q

Nuclei of damaged cells with bound anti-nuclear antibodies which become homogeneous and loose chromatin pattern

A

LE bodies (hematoxylin bodies) - seen in lupus

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58
Q

Palisades of nuclei at the end of a fibrillar bundle, seen in Schwannoma

A

Verocay bodies

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59
Q

Kayser-Fleischer rings

A

Seen on the cornea in wilson’s disease

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60
Q

Kuru plaques

A

Composed partly of a host-encoded prion protein, sometimes seen in CJD

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61
Q

Gyri of Parietal lobe (3):

A

1) Angular - maths, language, cognition (anomic aphasia if lesion - AAA) - area affected in GERSTMANN SYNDROME
2) Post-central - touch
3) Supramarginal - empathy

PArietal lobe is SUPER

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62
Q

Gyri of temporal lobe (2):

A

1) Fusiform - Face and body recognition, word and number recognition (visual) - involved in facial recognition
2) Superior temporal - Language Comprehension (Wernicke’s area), and sensation of sound. Reduced gray matter volumes in the superior temporal gyrus (STG) have been reported in patients with schizophrenia

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63
Q

Gyri of Frontal lobe (2):

A

1) precentral- voluntary movement and control
2) superior frontal - laughter and self-awareness

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64
Q

Gyri related to hippocampus (2):

A

1) Parahippocampal - surrounds the hippocampus - involved in memory, can be asymmetrical in schizophrenia
2) Dentate: Formation of episodic memory

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65
Q

Lingual and cingulate gyri (location and function):

A

1) Lingual - occipital lobe, dreaming and visual word recognition
2) Cingulate - adjacent to the corpus collosum, for emotion, memory and learning

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66
Q

Broca’s vs Wernicke’s:

A

Brocas:
Broadmanns 44, 45, frontal lobe, motor
Damage causes BROKEN words i.e non-fluent aphasia. Expressive aphasia - have understanding but can’t express it
(can be caused by occlusion of MCA)

Wernicke’s:
Broadmanns 22, posterior part of the superior temporal gyrus in the dominant hemisphere (next to primary audotory area)
Damage causes fluent aphasia - normal words but nonsensical - WACKY. Receptive aphasia - can’t understand speech

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67
Q

Two main types of Acetylcholine receptors:

A

Nicotinic - ionotropic, stimulated by ACh and nicotine - increases dopamine
Muscarinic - metabotropic, stimulated by muscarine and Ach (5 subtypes)

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68
Q

4 major pathways of dopamine:

A

Mesolimbic (VTA to NA) -Reward pathway
Mesocortical (VTA to cortex) - hypofunction = Neg sx
Nigrostriatal (SN to striatum) (Blockage = ESPEs)
Tuberoinfundibular (Hypothalamus to pituitary) - (blockage = Increased PROLACTIN)

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69
Q

What is the Ventral Tegmental Area?

A

The ventral tegmental area (VTA) is a group of dopaminergic cells located in the midbrain that are involved in reward and pleasure.
Start of both the mesolimbic and mesocortical pathways
Along with the NA the VTA plays acentral role in reward processing and therefore drug addiction.

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70
Q

Acetylcholine
1) Source
2) breakdown
3) re-uptake
4) function
5) sites of release

A

1) Choline and Acetyl co-A - catalysed by choline acetyltransferase (SITE: nucleus of Meynert in Basal Forebrain)
2) metabolite - choline. Catalysed by Acetylcholinesterase
3) no re-uptake, degraded choline is recycled
4) arousal modulation, learning, thirst, memory, REM, pain, perception
5) forebrain, brainstem

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71
Q

5 types of Muscarinic (ACh) receptors:

A

M1 - Exocrine function, inhibits dopamine release, affects cognitive function and seizure activity
M2 and M3 - mainly involved in smooth muscle contraction. M2 causes bradycardia, M3 inhibits dopamine release
M4 and M5 - ONLY in CNS - facilitate dopamine release.

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72
Q

Lyonisation:

A

Process of X-inactivation
Normal in females - inactivates one of X chrom, so genetic info not duplicated
Inactivated X chromosome = Barr body
Affects phenotype in Kleinfelter’s (XXY)

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73
Q

Genomic Imprinting:

A

Refers to a situation where a piece of DNA can behave differently depending on whether it is inherited from the mother or the father
Eg: Angelmann’s vs Prader-Willi syndrome - both due to deletion of 15q but A = from mother, PW = from father

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74
Q

Chromosomes with small p arms, that can be involved in Robertsonian translocations:

A

Acrocentric Chromosomes

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75
Q

A chromosome with equally sized p and q arms is referred to as:

A

Metacentric

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76
Q

RNA differs from DNA in 4 ways:

A

1) single stranded
2) much shorter
3) Base U instead of T
4) nucleotides contain ribose, rather than deoxyribose

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77
Q

3 main types of RNA:

A

1) Ribosomal RNA (rRNA) is what ribosomes are made up of and provides a place for mRNA and tRNA to attach during translation.
2) Messenger RNA (mRNA) is the RNA that carries information from DNA from the nucleus to the ribosomes.
3) Transfer RNA (tRNA) bring amino acids to the ribosome during translation

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78
Q

Transcription vs translation of RNA:

A

Transcription is the synthesis of RNA from a DNA template (i.e copying)
Uses RNA polymerases
3 steps - initiation, elongation, termination

Translation refers to the synthesis of polypeptides (proteins) from mRNA.
Translation takes place on ribosomes in the cell cytoplasm, where mRNA is read and translated into the string of amino acid chains that make up the synthesized protein.
Uses mRNA, tRNA and rRNA
Same 3 stages as above

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79
Q

Dysarthria - 5 types

A

Spastic (UMN)
Flaccid (LMN)
Hypokinetic (extrapyramidal)
Hyperkinetic (extrapyramidal)
Ataxic (cerebellar)

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80
Q

Spastic Dysarthria (features, conditions, localisation)

A

Explosive and forceful, at a slow rate
Pseudobulbar palsy, spastic hemIplegia
UMN

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81
Q

Flaccid Dysarthria (features, conditions, localisation)

A

Breathy, nasal, imprecise consonants
Myesthenia Gravis
LMN

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82
Q

Hypokinetic vs Hyperkinetic dysarthria

A

Both: extrapyramidal

Hypo: slow, quiet, monotonous, tremor - seen in PD

Hyper: strained, stoppages at inappropriate moments, variable rate - seen in tardive dyskinesia, Huntingtons, Sydenham’s chorea

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83
Q

Ataxic dysarthria (features, conditions, localisation)

A

rapid, slurred, mono-pitched - seen in Friedrich’s ataxia, alcohol abuse - cerebellum

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84
Q

3 types of white matter tracts:

A

Projection tracts:
Connect higher centers of the brain (those beyond the brain stem) with lower centers (e.g. brainstem and spinal cord)

Commissural tracts:
Connect the two hemispheres together

Association tracts:
Connect regions of the same hemisphere. Note: Long association connect separate lobes together whereas short association fibers connect separate gyri of the same lobe

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85
Q

5 examples of projection white matter tracts:

A

Corticospinal and corticobulbar - connect motor cortex to brain stem and spinal cord

Corona Radiata - from cortex to brainstem via the internal capsule

Internal capsule - Major conduit of fibers to and from the cerebral cortex

Geniculocalcarine Tract (optic radiation) - connects LGN to occipital (primary visual) cortex

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86
Q

2 types of commisural white matter tracts

A

1) Corpus Collosum - largest white matter bundle, connects two cerebral hemispheres

2) Anterior/ commissure AKA pre-commissure - crosses through the lamina terminalis (lateral wall of 3rd ventricle). Connects temporal lobes and amygdala and olfactory bulbs. Its anterior fibers connect the olfactory bulbs and nuclei; its posterior fibers connect middle and inferior temporal gyri

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87
Q

7 types of Association White Matter Tracts:

A

6 = Faciculus (faSIXulus)
1 = Cingulum (1 = SINGLE-um)

1) Cingulum - connects cingululate gyrus and enthorinal cortex (limbic system)

2 and 3) Superior and Inferior Orbitofrontal Faciculus - connect frontal and occipital lobes

4 ) Superior Longitudinal faciculus - Connects the frontal lobe cortex to parietal, temporal, and occipital lobe cortices (the largest association bundle)

5) Inferior longitudinal (occipitotemporal) faciculus - Connects temporal and occipital lobe cortices

6) Uncinate Faciculus - Connects the orbital and inferior frontal gyri of the frontal lobe to the anterior temporal lobe, connecting orbitofrontal cortex with parts of the limbic system

7) Arcuate - connects Brocas to Wernickes

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88
Q

Localise the lesion:
- Hemiparesis of the contralateral foot and leg (more severely than the arm)
- Sensory loss of the contralateral foot and leg
- Transcortical motor aphasia (lack of fluency with intact comprehension and repetition)
- Abulia, disinhibition, executive dysfunction, anosognosia (lack of insight), emotional lability, frontal release signs (re-emergence of primitive reflexes)

A

Anterior cerebral artery (ACA occlusion) - suspect if frontal signs

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89
Q

Localise the lesion:
- Hemiparesis of the contralateral face and limbs
- Sensory loss of contralateral face and limbs
- Dysphasia / aphasia (when dominant hemisphere affected) (Broca and Wernicke)
- Contralateral neglect
- Homonymous hemianopia or quadrantanopia without macular sparing (macular vision not preserved)
- Dorsolateral prefrontal dysfunction

A

Middle Cerebral Artery occlusion

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90
Q

Localise the lesion:
- Alexia without agraphia (left side) - can’t read, can still write
- Contralateral loss of pain and temperature sensation
- Contralateral hemianopia (with macular sparing)
- Prosopagnosia
- Ipsilateral cranial nerve defects (V, VIII, IX, X, & XI)
- Horner’s syndrome

A

Posterior Cerebral Artery occlusion - suspect if visual field issues

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91
Q

What type of stroke?

  • presents with either isolated hemiparesis, hemisensory loss or hemiparesis with limb ataxia
  • strong association with hypertension
  • common sites include the basal ganglia, thalamus and internal capsule
A

Lacunar Stroke

Note: Internal capsule is innervated by the Circle of Willis

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92
Q

Syndrome and blood supply?

Ipsilateral CN III palsy
Contralateral weakness of upper and lower extremity

A

Weber’s syndrome (branches of the posterior cerebral artery that supply the midbrain)

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93
Q

Syndrome and blood supply?

Ipsilateral: facial pain and temperature loss
Contralateral: limb/torso pain and temperature loss
Ataxia, nystagmus

Note: if have ipsilateral facial paralysis and deafness…?

A

Posterior inferior cerebellar artery (lateral medullary syndrome, Wallenberg syndrome)

POST a MEDal to Wallenberg)

If have ipsilateral facial paralysis and deafness - Anterior inferior cerebellar artery (lateral pontine syndrome)

ANTs in the PONd are DEAF

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94
Q

Locked In Syndrome is caused by a lesion in which artery?

A

Basilar artery/ lesion in the pons or medulla

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95
Q

Amaurosis fugax is caused by a lesion in which artery?

A

Retinal/ ophthalmic artery

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96
Q

Codons:

A

Three base nucleotides together
Code for amino acids
64 possible codons (triplet sequences)

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97
Q

The 3 trisomies that survive to birth are:

A

Trisomy 21 (Down’s syndrome) - 1 in 800 births

Trisomy 18 (Edwards syndrome) - 1 in 6000 births (E for EIGHTEEN) - severe intellectual disability, babies often die soon after birth. Kidney malformations, upturned nose, webbing of second and third toes, and clubbed feet (rocker bottom).

Trisomy 13 (Patau syndrome) - 1 in 10,000 births - Severe intellectual disability, babies often die soon after birth. Most have congenital heart malformations, anophthalmia and a cleft palate.

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98
Q

SYNDROME:
short stature (usually apparent by age 5), webbed neck, widely spaced nipples. Absent periods and incomplete breast development are common. Most affected are infertile (although assisted reproduction is an option). Intelligence tends to be normal although rates of intellectual disability are increased.

A

Turner Syndrome - 1/5000 female births
45X, or 45XO

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99
Q

SYNDROME:
Considerable variability but most able to live independently and form normal adult relationships. Although intellectual disability is not the norm, some degree of speech and language / educational issue is not uncommon. May be taller than expected. Normal sexual development and fertility is expected (although infertility can occur). Low set ears are associated.

A

Kleinfelter’s Syndrome (XXY) - 1-2/1000 male births

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100
Q

4 conditions to know that result from a structural abnormality in the chromosomes (deletions):

A
  • 22q11 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome) - a deletion in the long arm of chromosome 22 (22q11.2)
  • Cri-du-Chat Syndrome - caused by a deletion in the short arm of chromosome 5
  • Prader-Willi Syndrome - typically caused by a deletion in the long arm of chromosome 15 inherited by father
  • Angelman Syndrome - typically caused by a deletion in the long arm of chromosome 15 inherited by mother
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101
Q

Classic Hakim’s triad of normal pressure hydrocephalus (communicating hydrocephalus):

A

Gait instability
Urinary incontinence
Dementia
(wet, wobbly, wacky)

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102
Q

Which syndrome:
Bilateral posterior parietal/ occipital lobe dysfunction - triad of:
1) optic ataxia
2) occulomotor apraxia
3) simultanagnosia

A

Balint’s syndrome
(BILATERAL - B)

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103
Q

How does the amygdala function in the context of fear?

A

It acts to enhance the fight-or-flight response through its connections with the hypothalamus and periaqueductal grey matter.

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104
Q

Which term describes heritable phenotype changes that do not involve alterations in the DNA sequence?

A

Epigenetic

Note: Epigenetics involves genetic control by factors other than an individual’s DNA sequence. Epigenetic changes can switch genes on or off and determine which proteins are transcribed.

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105
Q

1) The nearer two loci are on a chromosome the less likely they are to be separated by crossing over. The measure of the distance between loci is called the:

2) A measure of the likelihood of two loci being within a measurable distance of each other is called the:

A

1) Recombination fraction - can vary from 0-50%
2) LOD score - >3 is considered evidence for linkage, and a LOD score of <-2 excludes linkage.

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106
Q

2 types of gene mapping:

A

1) Genetic linkage mapping - uses techniques such as pedigree analysis.
2) Physical mapping - a technique used to find the order and physical distance between DNA base pairs by DNA markers

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107
Q

A phenomenon whereby the symptoms of a genetic disorder become apparent at an earlier age as it is passed on to the next generation.

A

Anticipation

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108
Q

5 main structures of the Papez circuit:

A

1) Hippocampus
2) Mamillary Bodies (part of hypothalamus. Involved in memory and spatial orientation)
3) Anterior Nucleus of the Thalamus (relay station)
4) Cingulate Cortex (Associated with decision-making, empathy, and emotion.)
5) Enthorinal Cortex (in the parahippocampal gyrus - Functions as an interface between the hippocampus and neocortex and is involved in memory and navigation.)

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109
Q

What is Gerstmann’s Syndrome?

A

Dominant Parietal Lobe dysfunction:

agraphia, acalculia, finger agnosia, and RL disorientation

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110
Q

What percent of Caucasians are estimated to be homozygous for the isoform alcohol dehydrogenase ADH1B*1?

A

85-95%

i.e slow metabolisers of alcohol - no flushing reaction

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111
Q

Which gene is considered to have the greatest impact on the risk of alcohol dependency?

A

ADH1B (also ALDH2)

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112
Q

What is the most common cause of genetic LD?

A

Fragile X syndrome - trinucleotide repeat disorder CGG
a genetic syndrome characterised by mental retardation, an elongated face, macrocephaly large protruding ears, and large testicles (in men), “cluttered” speech
They tend to be shy, avoid eye contact, and have difficulties reading facial expressions. They often display stereotypic movements such as hand flapping.
Abnormal speech
It is an X-linked dominant disorder caused by the amplification of a CGG repeat in the 5 untranslated region of the fragile X mental retardation 1 gene (FMR1).
MORE REPEATS = MORE SEVERE
Males = affected more severely as only have 1 X chromosome

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113
Q

Planum Temporale (in Sylvian Fissure) Asymmetry is reduced in which 2 conditions:
(Bonus: what is the anterior border of the Planum Temporale called?)

A

Schizophrenia and Dyslexia

Involved in complex auditory processing, contains Wernicke’s area

Heschl’s gyrus (transverse temporal gyrus) is the anterior border of the planum temporale - contains Broadmann’s 41

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114
Q

Which Syndrome:
Elfin like features, social disinhibition, and abnormal friendliness towards strangers. Very sensitive hearing is also seen (hyperaccusis). Advanced verbal skills, speech is articulate but superficial (referred to as cocktail party speech). Cardiac issues (most common being supravalvular Aortic Stenosis)

A

William’s Syndrome - 7q11 deletion

Can be detected by FISH
Deletion takes place during meiosis
1/20000

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115
Q

Where are the following synthesised:
1) GABA
2) serotonin
3) Norepinephrine

A

1) Nucleus Accumbens
2) Raphae nucleus (brainstem) and endochromaffin cells (GI tract)
3) Locus Ceruleus

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116
Q

2 main measures of twin concordance rates:

A

1) Pairwise - This rate represents the proportion of twin pairs in which both individuals express a particular trait or condition. Especially useful when comparing MZ and DZ twins to gauge genetic component of a condition
(calculated by number of twin pairs where both twins have the trait/ total number of twin pairs)

2) Probandwise - This rate considers only those twin pairs where at least one twin manifests the trait. It’s essentially the likelihood that the second twin will also have the trait if the first one does. Can be more useful in rare conditions

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117
Q

What is Nissl Substance?

A

A Nissl body is a large granular body found ONLY in neurons. They consist of rough endoplasmic reticulum (with free ribosomes) and are the SITE OF PROTEIN SYNTHESIS

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118
Q

Concordance of autism in MZ and DZ twins:

A

Monozygotic concordance = 60-90% (Castelbaum, 2020)

Dizygotic concordance = closer to 30% (Frazier, 2014)

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119
Q

Which street drugs block SERT?

A

SERT = monoamine transporter that takes up serotonin
Blocked by MDMA, amphetamine, cocaine

MAC is SERTain

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120
Q

The most well known ATP-driven transporter at the BBB is:

A

P-glycoprotein

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121
Q

DAT vs SPECT scans:

A

A DAT scan specifically focuses on measuring the density and integrity of dopamine transporters in the brain.

SPECT, on the other hand, is a broader imaging technique that measures cerebral blood flow, metabolism, and neuroreceptor activity in the brain.

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122
Q

Low levels of which metabolite are seen in depression, aggression and suicidality?

A

5-hydroxyindoleactic acid (5-HIAA) - a metabolite of serotonin

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123
Q

Utilisation behaviours result from damage to which brain area?

A

Frontal lobe:

‘Utilization behaviour’ (UB) refers to the automatic elicitation of instrumentally correct, yet highly exaggerated and or inappropriate motor responses to environmental cues and objects i.e loss of normal inhibitory control

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124
Q

3 cardinal features of Multi-System Atrophy:

3 ways it presents:

A

MSA is a Parkinsons-Plus Syndrome.

3 features:
1) Parkinsonism
2) Autonomic failure
3) Cerebellar ataxia

PAC

3 presentations:
1) Striatonigral degeneration (mainly Parkinson features) - responds poorly to Levodopa
2) Shy-Drager Syndrome (mainly autonomic features)
3) Olivopontocerebellar atrophy (mainly cerebellar features)

Microscopic findings:
- Pappp-Lantos Bodies (alpha-synuclein inclusions in oligodendrocytes found in the substantia nigra, cerebellum, and basal ganglia).

Macroscopic features:
- greenish discolouration and atrophy of the putamen
- pallor of substantia nigra
- cerebellar atrophy

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125
Q

EEG frequencies between 1-12Hz (3 types)

A

DTA:
(DTs caused by Alcohol)

1-4Hz - Delta
4-8Hz - Theta
8-12Hz - Alpha

Delta - slow wave sleep (s.III), babies. If present in awake adults = pathology
(D - DON’T want when awake, D for Deep sleep)

Theta - Drowsy/ sleeping adults (s.I), meditation, young children. If ++ when awake = pathology

Alpha - meditation, when relaxed and when eyes closed but awake. They disappear with drowsiness, concentration, stimulation, visual fixation.

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126
Q

EEG frequencies between 12-100Hz (3 types)

A

SBG:

12-14Hz - sigma
12-30Hz - Beta (OVERLAP 12-14)
30-100 - Gamma

Sigma - (SLEEP SPINDLES) - Sleep (s.II), seen along with k-complexes

Beta - busy, concentrating

Gamma - very advanced meditation

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127
Q

EEG: Reduced Alpha and Beta, increased delta and theta

A

Alzheimer’s

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128
Q

EEG: diffuse slowing

A

Encephalopathy
Normal ageing (focal/ diffuse - if focal, left temporal region)
Delirium - along with reduced alpha, increased theta and delta

END

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129
Q

EEG: low voltage, no alpha (flattening)

A

Huntington’s

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130
Q

EEG: Hyperactive trace, fast

A

DTs

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131
Q

EEG: early on there is non specific slowing, later periodic biphasic and triphasic synchronous sharp wave complexes superimposed on a slow background rhythm

A

CJD (sporadic only!) - S for Slowing and Sporadic and Synchronius Sharp waves

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132
Q

6 Types of epilepsy and their EEG findings:
West Syndrome:

A

1) TYPICAL absence (petit mal) - generalized 3Hz spike wave
2) ATYPICAL absence - slow (<2.5Hz ) generalized spike-and-wave
(A for absence, low loltage. A before T - Atypical = lower Hz)

3) Focal (Partial) - focal spikes

4) Myoclonic - Generalized 3-6 Hz polyspike and wave discharge
5) Generalised Tonic-Clonic - EEG often obscured by artifact (movement). Generalized fast rhythmic spikes are seen in the tonic stage. Bursts of spikes and after-coming slow waves are synchronous with clonic jerks. A postictal period of irregular slow activity follows
6) Atonic (drop attack) - Generalized spike-and-wave is typical, with atonia at the time of the slow wave

West Syndrome: Infantile spasms
Hypsarrythmia on EEG, chaotic high amplitude polyspike waves

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133
Q

Thre recognisable clinical syndromes under the umbrella of FTD:

A

1) Behavioural-Variant Frontotemporal Dementia (bvFTD) (Pick’s disease)
2) Semantic-variant PPA (svPPA) - anterior temporal lobe affected
3) Non-fluent-variant PPA (nfvPPA)

PPA - primary progressive aphasia

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134
Q

3 neurodegenerative diseases that overlap clinically with FTD:

A

1) corticobasal degeneration (CBD)
2) progressive supranuclear palsy (PSP)
3) amyotrophic lateral sclerosis (ALS)

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135
Q

What is corticobasal degeneration (CBD)?

A

Rare progressive neurodegenerative disease that overlaps with FTD
Involves cerebral cortex and basal ganglia
Movement symptoms are ASYMMETRIC and include apraxia, aphasia, parkinsonism and alien hand syndrome

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136
Q

3 main proteins associated with FTD:

A

1) TAU (MAPT gene - c.17)
2) TDP-43 (genes: GRN, C9orf72, VCP, TARDBP)
3) FUS

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137
Q
A
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138
Q

What is Hardy-Weinberg Equilibrium?
The 5 assumptions of HW equilibrium:

A

The genetic variation in a population will remain constant from one generation to the next in the absence of disturbing factors

1) No mutations
2) No gene flow/ migration
3) Random (chance) mating
4) No genetic drift (i.e large enough pop prevents chance mutations causing mass change)
5) no natural selection (i.e differences in alleles have no evolutionary advantages or disadvantages)

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139
Q

Define endophenotype
Who introduced the concept of endophenotypes?

A

Measurable components, unseen by the unaided eye, along the pathway between disease and distal genotype, representing simpler clues to genetic underpinnings than the disease syndrome itself

Gottesman and Shields (1973)

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140
Q

5 types of single-gene (monogenic/ Mendelian) inheritance:

A

AD
AR
X-linked dom
X-linked rec
Y linked

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141
Q

Which cell component:
Modifies, sorts, and packages macromolecules for cell secretion (exocytosis) or use within the cell

A

Golgi Apparatus

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142
Q

Which cell component:
Consists of rough endoplasmic reticulum (with free ribosomes) and is the site of protein synthesis

A

Nissl Substance

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143
Q

Which cell component:
Contains the nucleolus and chromosomes, responsible for maintaining the integrity of genes and controlling the activities of the neuron by regulating gene expression

A

Nucleus

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144
Q

Which cell component:
Is involved in lipid synthesis, metabolism of carbohydrates, regulation of calcium concentration, drug detoxification, and attachment of receptors on cell membrane proteins

A

Smooth endoplasmic reticulum

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145
Q

Which Cell component:
Powerhouses of the cell involved in energy production through the process of oxidative phosphorylation

A

Mitochondria

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146
Q

Which Cell Component:
Provide structural support, involved in cell movement and transportation of organelles within the cell cytoplasm

A

Microfilaments and microtubules

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147
Q

Which component of the cell:
Contain hydrolytic enzymes for digestion of macromolecules and are involved in breaking down cellular waste and pathogens

A

Lysosomes

148
Q

A gap in the myelin sheath of a nerve, between adjacent Schwann cells, which facilitates the rapid conduction of nerve impulses is known as:

A

Node of Ranvier

149
Q

What method is particularly useful for detecting submicroscopic deletions that may not be visible on a standard karyotype.?

A

FISH - Fluorescence In Situ Hybridization

It is ideal for confirming suspected microdeletion syndromes, such as 22q11.2 deletion syndrome, because it can target specific genomic regions known to be associated with the clinical presentation.

150
Q

What is the name given to “punch drunk syndrome” or dementia often suffered by those who have experienced head injuries?

A

Dementia Pugilistica - now generally referred to as chronic traumatic encephalopathy (CTE)

Abnormal accumulation of Tau in neurons and glia in an irregular, focal, perivascular distribution and at the depths of cortical sulci (tau tangles seen) - specifically at the SEPTUM PELLUCIDUM which separates the lateral ventricles

151
Q

Autotopagnosia:

A

Inability to orient parts of the body
Left Parietal lobe lesion

152
Q

Anosognosia

A

Inability to recognise own condition/ illness
Right hemisphere lesion

153
Q

Phonagnosia

A

Inability to recognize familiar voices
R Temporal lobe or sulcus lesion

PHONe WERNICKE - Temporal

154
Q

Simultanagnosia (subtype of visual agnosia)

A

Inability to appreciate two objects in the visual field at the same time
BILATERAL occipital-parietal lesions (Balint’s)

155
Q

Prosopagnosia (subtype of visual agnosia)

A

Inability to recognise familiar faces, often referred to as ‘face blindness’

Typically associated with damage to the fusiform gyrus, a region in the brain’s occipital and temporal lobes that plays a crucial role in face perception

F for Fusiform, F for Faces.

156
Q

Astereoagnosia:

A

Inability to recognize objects by touch

Typically arises from damage to the somatosensory cortex, particularly in the parietal lobe, which is responsible for processing tactile information from the body.

(you can’t TOUCH an ASTEROID)

157
Q

Greek Warrior-Helmet Appearance is associated with:

A

Wolf-Hirschhorn syndrome
4p Deletion syndrome

(WOLF (4 letters) = WARRIOR)

158
Q

Dopamine breakdown is by which enzymes?

A

COMT and MAO

159
Q

Heritability is:

A

the proportion of phenotypic (phenotype is the set of observable characteristics or traits of an organism) variance attributable to genetic variance. This means that if a condition has a heritability of 0.80 then 80% of the variance of that condition seen in a population is attributable to genetic variation. The remaining 20% is attributable to environmental factors.

It tells us nothing about individuals

160
Q

Where is the Entorhinal cortex?

A

A subregion within the parahippocampal gyrus

161
Q

Myelination:

A

Myelin - fat and water,
Produced by glial cells (oligodendrocytes in CNS)
Begins at 14 weeks gestation
Last area to myelinate is frontal lobe

162
Q

Progressive supranuclear palsy pathology:

A

Macroscopic changes include:-

  • Pallor of substantia nigra (with sparing of the locus coeruleus) N.B ALSO SEEN IN PD
  • Mild midbrain atrophy “hummingbird sign” seen on structural imaging
  • Atrophy of the superior cerebellar peduncles
  • Discolouration of the dentate nucleus

Microscopic changes include:-

  • Gliosis
  • Neurofibrillary tangles and tau inclusions in both astrocytes and oligodendrocytes (coiled bodies), particularly in the substantia nigra, subthalamic nucleus and globus pallidus.
163
Q

Hoover’s Sign is:

A

When a patient with suspected functional (non-organic) paralysis is asked to lift the unaffected leg, the examiner’s hand placed under the affected leg feels pressure as the patient unconsciously uses the affected leg to help lift the healthy one. This sign indicates that the strength in the affected leg is essentially normal, suggesting that the paralysis may not be due to a physical cause.

164
Q

Kernig’s sign is:

A

a clinical sign that is positive when a patient lying flat has pain and resistance on passive knee extension when the hip is flexed at a 90-degree angle. It is associated with meningitis and is not demonstrated in the scenario provided.

165
Q

Ideational vs Ideomotor apraxia:

A

Ideational: An inability to follow a sequence of actions in the correct order.

Ideomotor: An inability to carry out learned tasks when given the necessary objects; the patient cannot use an object correctly on command due to a disruption in the ability to plan or execute motor functions, despite understanding the use of the object and having the physical ability to perform the action (may use object for wrong task)

166
Q

In order of frequency the most common brain tumours in adults are:

A

1) Metastatic tumours
2) Glioblastoma multiforme
3) Anaplastic astrocytoma
4) Meningioma

167
Q

In order of frequency the most common brain tumours in children are:

A

1) Astrocytoma
2) Medulloblastoma
3) Ependymoma

168
Q

Purines vs Pyramidines:

A

2x purines = AG (PURe As Gold)
3x pyramidines = CUT
(longer word, more of them)

169
Q

What are the areas situated around the Sylvian fissure (lateral sulcus) known as?

A

perisylvian language area

170
Q

What divides the frontal and parietal lobes above from the temporal lobe below?

A

Sylvian Fissure (Lateral sulcus)

171
Q

What separates the frontal from the parietal lobe

A

The central sulcus (the fissure of Rolando)

172
Q

Which bundle of association fibres provides a connection between the frontal and temporal lobes and plays a central role in the repetition of language?

A

Arcuate Fasciculus - note: lesion here causes conduction aphasia

173
Q

3 foramen of Middle cranial fossa and what do they transmit?

A

1) Foramen spinosum - middle meningeal artery
2) Foramen ovale - Mandibular division of trigeminal nerve
3) Foramen lacerum - the small meningeal branches of the ascending pharyngeal artery and emissary veins from the cavernous sinus

174
Q

2 foramen in the posterior cranial fossa and what do they transmit:

A

Foramen Magnum - spinal cord

Jugular foramen - CN 9, 10, 11

175
Q

4 hormones that control appetite:

A

1) Neuropeptide Y is produced by the hypothalamus and increases appetite
(hYpothalamus - Y)
2) Ghrelin is produced mainly by the gut and increases appetite (G = Growling stomach)

3) Leptin is produced by adipose tissue and reduces appetite (L = LESS hungry)
4) Cholecystokinin (CCK) is produced mainly by the gut and reduces appetite

176
Q

During stress, which 2 hormones are released from the paraventricular nucleus of the hypothalamus?

A

Corticotropin-releasing hormone (CRH)

Arginine vasopressin (AVP).

177
Q

What does the DEX suppression test measure?

A

The response of the adrenal glands to ACTH.

178
Q

Fluent speech + impaired repetition + intact comprehension = which type of aphasia?

A

Conduction aphasia

Defining feature: repetition

Considered a disconnection syndrome caused by a lesion in the acruate fasciculus

179
Q

Cerebrospinal fluid passes from the subarachnoid space back to the vascular system via:

A

The subarachnoid villi

180
Q

CSF vs Plasma. CSF has:

A

Reduced:
Protein content
Glucose
Cholesterol
pH
Calcium
Potassium

Same: Sodium

More:
Chloride
Magnesium
pCO2

181
Q

Which syndrome:
bilateral dysfunction or damage to the medial temporal lobes of the brain

A

Kluver-Bucy Syndrome (assoc with Alzheimer’s, FTD, trauma, herpes, bilateral temporal lobe infarction)

The medial temporal regions, particularly the amygdala and hippocampus, play a pivotal role in emotion, memory, and behaviour, and their bilateral malfunction can lead to a distinctive clinical presentation:

Hyperorality
Docility
Visual Agnosia
Hyperphagia
Altered sexuality

182
Q

Where is the lesion:

Language Disturbances: Since the dominant temporal lobe typically houses Wernicke’s area, its dysfunction can lead to problems with language comprehension (Wernicke’s aphasia).
Memory Difficulties: Can specifically affect verbal memory and the ability to remember and understand language-based information.
Auditory Verbal Agnosia: Difficulty recognizing spoken words.

A

Dominant temporal lobe

183
Q

Where is the lesion:

Broca’s aphasia, executive dysfunction, impaired working memory, mood changes, motor apraxia

A

Dominant frontal lobe

184
Q

Where is the lesion:

Impaired Recognition of Non-Verbal Sounds: Such as music or environmental sounds (auditory agnosia).
Emotional Recognition Issues: Trouble interpreting emotional cues in spoken language, like tone of voice.
Visual Memory Deficits: Problems may arise with non-verbal memory, such as remembering faces or places.

A

Non-dominant temporal lobe

185
Q

Types of serotonin receptors:
All G-protein receptors, bar one.

A

5-HT1A - play a role in inhibiting serotonin release, can enhance sexual behaviours as dopamine can act freely
5-HT1B - autoregulatory function. They modulate 5-HT reuptake and modulate 5-HT synthesis and release

5-HT2 (A and C):
5-HT2C - linked to anorgasmia (drugs can target this receptor in an attempt to mitigate SSRI-induced anorgasmia)
5-HT2A - also linked to above by inhibiting dopamine release

5-HT3 - the ONLY ligand-gated serotonin receptor. Most associated with nausea

5-HT7 - assoc with circadian rhythms

186
Q

3 Catecholamines present in the body:

A

Dopamine
Adrenaline
Noradrenaline

All derive from amino acid TYROSINE

187
Q

When would you use WGS (whole genome sequencing)?

A

This is the most comprehensive method for detecting both known and unknown genetic variations across the entire genome.

188
Q

When would you use karyotyping?

A

For identifying large chromosomal abnormalities but lacks the resolution to detect small genetic changes or novel mutations at the nucleotide level.

189
Q

Which disease primarily affects the small blood vessels in the white matter of the brain which become blocked by thickening of blood vessel walls? It is characterized by migraine headaches and multiple strokes, which progresses to dementia
- what are the genetics?

A

CADASIL (c.19, NOTCH 3 gene Autosomal Dominant)
cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

190
Q

Genetics of Dementia with Lewy Bodies and PD:

A

Dementia with LB:
SNCA - c.4 - AD (codes for alpha synuclein)
GBA and APOEe4 increase risk but not direct causes
Most cases are sporadic

PD:
Most cases are idiopathic
SNCA - c.4 - AD (codes for alpha synuclein) - found in several families with PD
Parkin gene - c.6

Also LRRK2, and PINK1

191
Q

Genetics of Familial frontotemporal dementia

A

AD

C9orf72 - (c.9) most common mutation
Also, PGRN (progranulin) and MAPT (both c.17)

Between 20-50% of cases of FTD are familial

192
Q

Genetics of Late Onset Alzheimer’s

A

APOE4 - c.19- involved in breakdown of amyloid plaques

This is called a risk-factor gene because it increases a person’s risk of developing the disease. However, inheriting an APOE4 allele does not mean that a person will definitely develop Alzheimer’s. Some people with an APOE4 allele never get the disease, and others who develop Alzheimer’s do not have any APOE4 alleles.

Less involves is another gene - SORL1 (c.11)

193
Q

How does APOE affect Alzheimer’s risk (>65)

A

APOE2 - protective
APOE3 - neutral
APOE4 - increases risk

Homozygotes for APOE4 - 10-30x risk
Heterozygotes = 3 x risk
Each allele lowers age of onset by 10 years

194
Q

Aneuploidy refers to:

A

Abnormal number of chromosomes

e.g trisomies (21, 13, 18)
Monosomies (Turners - XO)
Kleinfelters (XXY)
Triple

Mostly result from the nondisjunction of chromosomes during meisosis 1

195
Q

Sleep stages:

A

1-3 = non-REM
4 = REM

196
Q

Sleep Stage 1:

A

Non-REM
Approx 5%, 1-7 mins
EEG: Theta waves 4-7Hz
“dozing off”, hypnic jerks

197
Q

Sleep Stage 2:

A

Non-REM
Approx 45%, 10-25 mins - longest stage
EEG: Theta waves, K complexes and sleep spindles (short bursts of 12-14Hz activity)
Everything slows down, body temp drops, K complexes play role in memory consolidation

198
Q

Sleep Stage 3:

A

Non-REM
Approx 15% (20-40 mins)
Deepest stage of sleep - high waking threshold. Growth, repair, immune system strengthening, night terrors (stage 3 into 4), sleepwalking, bed wetting
EEG: Delta waves (0-4Hz) - “3D”

199
Q

Sleep Stage 4:

A

REM sleep
Approx 15% (10-60mins)
EEG: mixed, but mostly Beta, sawtooth pattern seen

High dream activity. When nightmares happen.
The percentage of REM sleep decreases with age.

REM increases through the night, and Non-REM decreases

200
Q

Which enzyme cleaves APP to produce non-toxic protein fragments

A

Alpha-secretase

N.B: Gamma and Beta secretase also cleave APP but into shorter, stickier fragments called B-amyloid, which form insoluble plaques

201
Q

Which syndrome:
Normal for the first 12 months. Regression and loss of skills from around 18 months onwards. Hand-wringing movements are the most common feature. Associated learning disability is profound. Affects girls almost exclusively

A

Rett Syndrome
Xq28
(Mutation in the MECP2 gene)
X-linked Dominant
Mostly sporadic

202
Q

Which syndrome: Abdominal swelling, cherry red spot, feeding difficulties

A

Niemann Pick Disease (A and B)
11p15

203
Q

Which Syndrome: Tend to be tall and strong but with no increase in testosterone, . Sexual development is normal. Tend to have lower mean intelligence. Early links with criminality have not been supported, often asympromatic, increased ADHD/ Autism

A

Jacob’s Syndrome
47 XYY

204
Q

Which condition: Hamartomatous tumours affect various organs including the brain. 80% suffer with epilepsy. Autism, ADHD, and

A

Tuberous Sclerosis
Genetically heterogeneous, linkage to 9q and 16p

205
Q

Which Syndrome: Pronounced self injurious behaviour, self hugging, and a hoarse voice

A

Smith-Magenis syndrome
17p11

206
Q

Which syndrome: Self mutilation, dystonia and writhing movements and results from a disturbance in the metabolism of purines?

There is also intellectual disability, behavioural problems and it exclusively affects males (X-linked recessive)

A

Lesch-Nyhan Syndrome
Xq26-27 - mutations in the HPRT1 gene

there is an overproduction and accumulation of uric acid resulting in hyperuricemia, nephrolithiasis, gouty arthritis, and subcutaneous tophi.

207
Q

Which Syndrome:
Cleft palate, cardiac problems, and learning disabilities. A higher rate of psychiatric disorders is also seen

A

Velocardiofacial syndrome (Di George syndrome)
22q (deletion)

208
Q

Which condition: Characteristic cry like a meowing kitten, hypotonia, hypertelorism, a down-turned mouth, and microcephaly

A

Cri du chat
5p deletion

209
Q

Three types of glial cell (4 altogether)

A

Macroglia (astrocytes and oligodendrocytes)
Ependymal cells
Microglia

Astrocytes have numerous functions including structural support, repair of nervous tissue, providing nourishment to neurons, contributing to the blood brain barrier, neurotransmission, and vasomodulation. There are two main types, protoplasmic and fibrous.

Oligodendrocytes are responsible for the formation of myelin sheaths.

Ependymal cells line the ventricular system and are involved with CSF circulation and fluid homestasis in the brain. Specialised ependymal cells call choroid plexus cells are responsible for CSF production.

Microglia are the immune cells of the CNS. NB a gitter cell is a microglial cell that has engulfed infectious material.

210
Q

In the cerebrum, what is the:
1) fornix
2) insula

A

1) Bridge of white matter inferior to the corpus callosum; links regions of the limbic system (‘emotional’ brain) together. Major output tract of the hippocampus (to mamilliary bodies - Papez Circuit)
2) Region of the cerebrum deep within the lateral sulcus; processes information associated with hearing and equilibrium

211
Q

What is the embryonic origin of the thalamus, hypothalamus, optic nerves and third ventricle?

A

Diencephalon

THO-N 3

Note: the largest structure is the thalamus

212
Q

What is the embryonic origin of the pons, cerebellum and sup part of 4th ventricle?

A

Metencephalon

PC Sup4

213
Q

What is the embryonic origin of the medulla and inf part of 4th ventricle?

A

Myencephalon

(My My My Myx4 Medulla
Lower 4th V)

214
Q

What is the embryonic origin of the midbrain and cerebral aqueduct?

A

Mesencephalon

(The Middle of the Aqueduct could get MESsy)

215
Q

What is the embryonic origin of the cerebral cortex, basal ganglia and lateral ventricles?

A

Telencephalon

CC, BG, LV =TEL-E

216
Q

In the diencephalon, what are the:
1) Mammillary bodies
2) Pineal gland
3) thalamus

A

1) A relay point most notably involved in memory. When damaged people tend to get a ‘diencephalic amnesia’ characterised by anterograde amnesia. The mamillary bodies are atrophied in Korsakoff’s syndrome (reduced activity of transketolase). The mamillary bodies also contain cells which note the direction of the head and function like a compass to aid navigation
2) Unpaired structure (only one per brain). Main function is secretion of melatonin which regulates circadian rhythms
3) 80% of the diencephalon. Major relay point and processing centre for all sensory impulses (excluding olfaction). Comprised of numerous nuclei and is involved in most functional areas (motor, emotional, memory, visual, auditory)

217
Q

Damage to which area causes Wernicke and Korsakoff Syndrome?

A

Medial thalamus and mammillary bodies of the hypothalamus

218
Q

Which Syndrome?
Affected individuals are cortically blind but are unaware of this and deny they have a problem (anosognosia). It often presents as the patient starts falling over furniture as they can’t see. Affected individuals believe they can still see and describe their environments in detail but are wrong in their description (confabulation).

A

Anton’s syndrome (aka Anton-Babinski syndrome). Damage to the Occipital Lobe

219
Q

What does Ubiquitin do?

A

Proteins are tagged for degradation with a small protein called ubiquitin. They will then be degraded by the proteasome.

220
Q

1) Agonists
2) Antagonists

of GABA-A, GABA-B

A

GABA-A -

Agonists:
ethanol
benzodiazepines
z-drugs
barbiturates

Antagonists:
Flumazanil

GABA-B -

Agonists:
baclofen
GHB

221
Q

6 cranial nerve reflexes:

A

1) Pupilliary light reflex
S: 2 M:3

2) Accommodation reflex
S: 2 M:3

3) Jaw jerk
S: 5 M:5

4) Corneal reflex
S: 5 M:7

5) Vestibulocochlear
S: 8 M: 3, 4, 6

6) Gag reflex
S: 11 M: 10

222
Q

How many autosomes do we have?

A

44 - 22 pairs
23rd pair = sex chromosomes

223
Q

Synthesis, take-up and breakdown of serotonin:

A

1) Starts with L-tryptophan (can cross BBB, unlike serotonin)
2) Hydroxylation to 5-hydroxytryptophan catalysed by tryptophan hydroxylase
3) Decarboxylation of 5-hydroxytryptophan to serotonin (5-hydroxytryptamine) by L-aromatic amino acid decarboxylase

Taken up by SERT

Broken down by MAO and then aldehyde dehydogenase to 5-Hydroxyindoleacetic acid (5-HIAA).

224
Q

Which mutation: charactarised by a single nucleotide substitution in the DNA sequence that converts an amino-acid-encoding codon into a stop codon. This mutation truncates the protein, often resulting in loss of function due to the early termination of translation.

A

Nonsense mutation

225
Q

3 types of stop Codons:

A

TAA/ UAA
TAG/ UAG
TGA/ UGA
(note: T becomes U in RNA)

226
Q

Strychnine is an antagonist of which inhibitory neurotransmitter?

A

Glycine. Glycine acts to hyperpolarise neurons and thus inhibit their activity. By blocking this action, strychnine leads to an overactivity of the CNS, resulting in the symptoms of strychnine poisoning such as muscle spasms, convulsions and potentially death due to respiratory failure.

227
Q

3 occular features of MS:
3 types and prevelance:

A

1) Optic neuritis (unilateral visual loss)
2) Internuclear ophthalmoplegia (diplopia and/or nystagmus due to a problem arising from the midbrain)
3) Ocular motor cranial neuropathy (e.g. sixth nerve palsy)

1) Prim Prog: 5-10%
2) relaps-remitt: 20-30%
3) sec. prog (most common): 60%

228
Q

The resting membrane potential of a neuron is due to the high concentration of which extracellular ion?
And what is the threshold for an action potential?

A

Sodium
(-70mV - high Na outside cell compared to K inside cell)
AP - at -55mV

229
Q

3 types of point mutation:
4 types of chromosomal mutation:

A

POINT:
Insertion
Deletion
Substitution

CHROMOSOMAL:
Inversion
Deletion
Duplication
Translocation

230
Q

Histamine production and metabolism

A

Histamine is produced from the amino acid histidine by a histidine decarboxylase and is metabolised by the combined actions of histamine methyltransferase and MAO.

231
Q

4 types of histamine receptors (where found and function)

A

H1 CNS tissue, smooth muscle, and endothelium
Vasodilation, bronchoconstriction, pain and itching from stings

H2 Parietal cells in stomach Stimulates gastric acid secretion

H3 Central and peripheral nervous tissue
Decreases the release of other neurotransmitters (serotonin, noradrenaline, acetylcholine)

H4 Basophils
Chemotaxis (cellular movement)

232
Q

3 conditions associated with Copy Number variations:

A

Schizophrenia, autism, ideopathic LD

233
Q

4 cranial nerves that arise from the medulla:

A

9, 10, 11,12

234
Q

4 cranial nerves that arise from the pons:

A

5, 6, 7, 8

235
Q

2 cranial nerves that arise from the midbrain:

A

3, 4

236
Q

What are the origins of CN 1 and 2?

A

1) Olfactory - telencephalon
2) Optic - diencephalon

(Optic = di = 2 eyes
Offactory = what is that TErrible Smell = Tel)

237
Q

Brushfield spots are associated with which syndrome?

A

Down Syndrome - small white/grey spots in periphery of iris
When seen in normal children they are referred to as Kunkmann-Wolffian bodies. They occur in 35-78% of newborn infants with Down syndrome.

238
Q

Hepatolenticular degeneration is better known as:

A

Wilson’s Disease

239
Q

4 major tauopathies are:

A

Alzheimer’s
Pick’s (frontotemporal dementia)
Progressive supranuclear palsy
Cortiocobasal degeneration

240
Q

5 trinucleotide repeat disorders to know:

A

Fragile X - CGG c.12 (X-dom)
Myotonic dystrophy - CTG c.19(AD)
Huntington’s - CAG c.4 (AD)
Friedrich’s Ataxia - GAA c.9 (AR)
Spinocerebellar ataxia - also CAG (AD)

NB: known as DYNAMIC mutations

241
Q

In schizophrenia, what causes:
1) psychosis
2) negative symptoms

A

1) increased dopaminergic activity in the striatum
2) decreased dopaminergic activity in the frontal lobe

242
Q

2 main observations of the dopamine hypothesis:

A

it is possible to induce a psychotic episode in healthy subjects with pharmacological dopamine agonist
all effective antipsychotic drugs provide at least some degree of D2-type dopamine receptor blockade.

243
Q

3 structures in the BG that make up the striatum:

A

Putamen
Caudate
Nucleus Accumbens

244
Q

2 structures in the BG that make up the lentiform nucleus:

A

Globus Pallidus and Putamen

245
Q

Which hormone inhibits the secretion of thyroid-stimulating hormone and growth hormone in the brain, and is produced in both the pancreas and the hypothalamus?

A

Somatostatin

246
Q

Cerebellar Ataxia, Hunter’s Syndrome and Lesch-Nyann syndrome demonstrate which type of inheritance?

A

X-linked recessive

247
Q

Vitamin D resistant rickets, Rett syndrome, Fragile X syndrome demonstrate which type of inheritance?

A

X-linked dominant

248
Q

Phenylketonuria, homocystinuria, Hurler’s syndrome, galactosaemia, Tay-Sach’s disease, Friedrich’s ataxia, Wilson’s disease, cystic fibrosis demonstrate which type of inheritance?

A

Autosomal Recessive

249
Q

Conditions where there are a variety of genetic defects all causing the same condition are said to demonstrate:

A

Heterogeneity

250
Q

What is the significance of a mutation in the Promoter Region?

A

Promoter regions are crucial for the initiation of transcription, which involves the synthesis of RNA from a DNA template. Mutations in this area can significantly impact gene expression and can contribute to various diseases, including Alzheimer’s. A mutation in the promoter region could affect the binding of transcription factors or RNA polymerase, thus altering gene expression.

251
Q

3 divisions of the embryonic brain (5 subdivisions):

A

1) Forebrain (Prosencephalon)
subdivided into:
- telencephalon (forms cerebrum)
- diencephalon

2) Midbrain
- mesencephalon

3) Hindbrain (rhombencephalon) (includes medulla, pons, cerebellum)
- metencephalon
- myencephalon

252
Q

What is the name given to an autonomously replicating, extrachromosomal circular DNA molecule, distinct from the normal bacterial genome and nonessential for cell survival under nonselective conditions?

A

Plasmid

253
Q

What is the term given to the spherical embryonic mass of blastomeres formed before the blastula and resulting from cleavage of the fertilized ovum.

A

Morula

254
Q

What is the difference between mosaics and chimeras?

A

Mosaics and chimeras are animals that have more than one genetically-distinct population of cells. The distinction between these two forms is quite clearly defined, although at times ignored or misused. In mosaics, the genetically different cell types all arise from a single zygote, whereas chimeras originate from more than one zygote.

Mosaics = single zygote
Chimeras = Couple of zygotes

255
Q

What sort of agonists have been shown in animals to increase striatal dopamine release?

A

Cannabinoid

256
Q

A modest (10-20%) elevation in which receptor density is seen in schizophrenia independent of the effects of antipsychotic drugs?

A

Striatal D2/3 receptor density

257
Q

Right vs Left frontal lobe lesions:

A

Left: more likely to be associated with depression, particularly if the lesion involves the dorsolateral portion of prefrontal cortex.

Right: associated with impulsivity, disinhibition, and aggression.

258
Q

Which molecule, when elevated, has been implicated in BBB breakdown in Alzheimer’s disease?

A

Beta-Amyloid

259
Q

Hypermetabolism of the orbitofrontal area is associated with:

A

OCD

Also seen in caudate, thalamus, prefrontal cortex, and anterior cingulate

Hence this is the area targeted by transcranial magnetic stimulation in OCD

260
Q

What has been the most consistent EEG finding associated with clozapine use?

A

Decreased alpha, increased theta, increased delta

261
Q

Lithium vs Lamotrigine EEG findings:

A

Lithium = increased x4 (A, B, D, T)
Lamotrigine = decreased x 4

262
Q

1) Horizontal transmission is seen in:
2) Vertical transmission is seen in:

A

1) AR conditions
2) AD conditions

263
Q

What is horizontal inheritance pattern?

A

A horizontal inheritance pattern is one where a trait or disorder is seen in siblings but not in their parents or offspring. This pattern is typically indicative of an autosomal recessive mode of inheritance.

264
Q

What is Locus Heterogeneity?

A

Locus heterogeneity refers to the situation when a disorder or trait is caused by mutations in genes at different chromosomal loci.

E.G Alzheimer’s - Presenilin 1, 2 and APP

265
Q

What is genomic imprinting?

A

Genomic imprinting refers to a situation where a piece of DNA can behave differently depending on whether it is inherited from the mother or the father.

266
Q

What component of the BBB actively transports certain drugs and potential toxins out of the brain and back into the bloodstream, thereby playing a protective role and influencing drug pharmacokinetics in the brain?

A

P-glycoprotein

267
Q

Which Dopamine receptors are referred to as D1-like receptors?
What is activated by these receptors?

A

D1 and D5 (all g-protein coupled)

Activation of this family of receptors activates adenylyl cyclase (aka adenylate cyclase), increasing the intracellular concentration of the second messenger cyclic adenosine monophosphate (cAMP).

D1 is the most abundant

268
Q

Which dopamine receptors are referred to as D2-like receptors?
What is activated by these receptors?

A

D2, D3, D4 (all g-protein coupled)

Activation of this family of receptors inhibits the formation of cAMP by inhibiting the enzyme adenylyl cyclase.

269
Q

Monozygotic vs Dizygotic concordance of autism:

A

Monozygotic concordance = 60-90%
Dizygotic concordance = closer to 30% (Frazier, 2014)
The molecular genetics is still poorly understood. Copy number variations (CNVs) are implicated along with a number of candidate genes.

270
Q

Monozygotic vs Dizygotic Concordance of schizophrenia:

A

Schizophrenia demonstrates incomplete penetrance which is evidenced by:

monozygotic concordance of approximately 50%
dizygotic concordance of 17%

(Gottesman, 1972).

271
Q

5 Macroscopic pathological features of schizophrenia:

A

Ventricular enlargement
Subtle reductions in total gray matter volume
Reduced brain volume (up to 5%)
Reductions in gray matter volume
Reduced asymmetry (planum temporale)

272
Q

2 functional findings in the brain of those with schizophrenia:

A

Decreased activation of prefrontal cortex (hypofrontality)
Increased activation of temporal regions during hallucinations

273
Q

Which syndrome?
Hyperphagia (excessive eating) and obesity
Short stature
Delayed puberty, hypogonadism, infertility
Learning difficulties
Compulsive behaviour (e.g. skin picking)

A

Prader-Willi Syndrome

274
Q

GABA is synthesised from:

A

Glutamate

275
Q

Which spinal cord lesion:

bilateral spastic paresis, loss of proprioception and vibration sensation and limb ataxia

A

Subacute combined degeneration of the spinal cord

276
Q

Which spinal cord lesion:

flacid paresis of the intrinsic hand muscles with loss of pain and temperature sensation

A

Syringomyelia

277
Q

A lesion where will cause superior homonymous quadrantanopia?

A

Contralateral parts of visual pathway - inferior optic radiation (Temporal Meyers Loop)

278
Q

Where is the lesion:

Spatial attention defIcits, disinhibition, poor judgement of time and sequence, Expressive Deficits in Non-verbal Communication, Prosody Changes i.e problems with the rhythm and inflection of speech, which may make verbal communication seem monotone or inappropriate to the context.

A

Non-dom frontal lobe

279
Q

Toxoplasmosis vs Progressive multifocal leukoencephalopathy

A

Both:
HIV, neuro symptoms

T: multiple brain lesions with ring enhancement

P: widespread demyelination

280
Q

Which condition:
accounts for around 30% of cerebral lesions
associated with the Epstein-Barr virus
CT: single or multiple homogenous enhancing lesions

A

Primary CNS lymphoma

281
Q

Toxoplasmosis vs lymphoma

A

T: multiple lesions
L: single lesions

T: Ring/ nodular enhancement
L: solid/ homogenous enhancement

T: Thalium SPECT negative
L: Thallium SPECT positive

282
Q

Which condition:
most common fungal infection of CNS
- headache, fever, malaise, nausea/vomiting, seizures, focal neurological deficit
CSF: high opening pressure, India ink test positive
CT: meningeal enhancement, cerebral oedema
meningitis is typical presentation but may occasionally cause a space occupying lesion

A

Cryptococcus

283
Q

Which condition is the most common HIV related brain disease?

A

Toxoplasmosis

284
Q

How does HIV spread to the brain?

A

Infected macrophages

285
Q

Which condition:
AD, neurocutaneous condition
- Ash-leaf spots
- Shagreen patches
- angiofibromas - retinal haemartomas
- subungal fibromata - polycystic kidneys
- developmental delay and LD
- epilepsy

A

Tuberous sclerosis

286
Q

Which condition:
AD neurocutaneous condition
- Cafe-au-lait spots - axillary/groin freckles
- acoustic neuromas and other CNS tumours*
- Iris haemartomas

A

Neurofibromatosis
* NF2 only

287
Q

Which artery causes the lesion:
ipsilateral oculomotor palsy and contralateral weakness of the upper and lower extremity

A

Branches of the posterior cerebral artery that supply the midbrain

288
Q

Friedrich’s Ataxia vs Subacute Combined Degeneration of the Spinal Cord (Vit B12 and Vit E deficiency):

A

Same 3 tracts affected:
Lateral corticospinal tracts
Dorsal columns
Spinocerebellar tracts

Same 3 main symptoms (motor and sensory):
1. Bilateral spastic paresis
2. Bilateral loss of proprioception and vibration sensation
3. Bilateral limb ataxia

Friedrich’s Ataxia also has cerebellar ataxia → other features e.g. intention tremor

289
Q

Which condition?

  1. Ipsilateral spastic paresis below lesion
  2. Ipsilateral loss of proprioception and vibration sensation
  3. Contralateral loss of pain and temperature sensation
A

Brown-Sequard syndrome (spinal cord hemisection)

  1. Lateral corticospinal tract
  2. Dorsal columns
  3. Lateral spinothalamic tract
290
Q

Which condition:
1. Flacid paresis (typically affecting the intrinsic hand muscles)
2. Loss of pain and temperature sensation

A

Syringomyelia

  1. Ventral horns
  2. Lateral spinothalamic tract
291
Q

Which condition:

  1. Bilateral spastic paresis
  2. Bilateral loss of pain and temperature sensation
A

Anterior spinal artery occlusion

  1. Lateral corticospinal tracts
  2. Lateral spinothalamic tracts
292
Q

2 spinal cord lesions that result in motor lesions only:

A

Amyotrophic lateral sclerosis (motor neuron disease) - affects both upper (corticospinal tracts) and lower motor neurons and results in a combination of upper and lower motor neuron signs

Poliomyelitis
affects anterior horns resulting in lower motor neuron signs

293
Q

What are the motor (efferent) tracts in the spinal cord?

A

Pyramidal: lateral corticospinal, anterior corticospinal

Extrapyramidal

294
Q

Which lobe is commonly affected in Herpes Simplex Encephalitis?

A

Temporal (and inferior frontal)

295
Q

Which condition:
fever, headache, psychiatric symptoms, seizures, vomiting, focal features e.g. aphasia

A

HSV encephalitis (Note: HSV-1 is responsible for 95% of cases)

296
Q

What 5 investigations should be done and what would they show in HSV encephalitis?

A

LP: CSF - lymphocytosis, elevated protein

PCR for HSV

CT: medial temporal and inferior frontal changes (e.g. petechial haemorrhages) - normal in one-third of patients

MRI is better

EEG pattern: lateralised periodic discharges at 2 Hz

297
Q

Treatment and prognosis of HSV encephalitis:

A

Treatment: intravenous aciclovir

The prognosis is dependent on whether aciclovir is commenced early. If treatment is started promptly the mortality is 10-20%. Left untreated the mortality approaches 80%

298
Q

In the context of Hebbian theory, what outcome is expected when there is repetitive simultaneous activation of connected neurons?

A

The synaptic connection between the neurons strengthens

299
Q

4 things that define narcolepsy:

A
  • Excessive sleepiness
  • Cataplexy (a sudden loss of muscle tone triggered by emotions)
  • Hypnagogic hallucinations
  • Sleep paralysis
300
Q

How does prion disease work?

A

Normal PrP (Prion protein) = PrPC (alpha-helical structure)
Abnormal PrP = PrPSc (much of the alpha-helical structure is replaced by a beta-sheet structure)

PrPSc can change adjacent normal Prion proteins into PrPSc’s = how it spreads

PrPSc is resistant to protease and therefore cannot be broken down in the body.

301
Q

4 tests done in diagnosing narcolepsy:
What neuropeptide hormone is often deficient in patients with narcolepsy?

A
  • Multiple sleep latency test
  • Polysomnogram
  • Sleep deprived EEG
  • Cerebrospinal fluid analysis

Narcolepsy has been associated with hypocretin deficiency (AKA orexin)

302
Q

Which mineral causes vesicles packed with neurotransmitter to fuse with the synaptic membrane and release the neurotransmitter into the synaptic cleft?

A

Calcium

303
Q

What is Diffusor Tensor Imaging?

A

A type of MRI which is a method for estimating the paths water takes as it diffuses through white matter, and so showing white matter tracts

304
Q

What is fMRI?

A

It examines changes in blood oxygen level dependent signal (i.e deoxygenation of Hb) as a proxy measure of neural activity

305
Q

In which part of the brain would you find medium spiny neurones?

A

Striatum

These neurons play a critical role in the processing of movement-related and reward-related signals, making them essential for understanding conditions like Parkinson’s disease and Huntington’s disease. Clinically, insights into the function and dysfunction of medium spiny neurons in the striatum can aid in the development of treatments for these and other neurological disorders.

306
Q

In which part of the brain would you find Purkinje cells?

A

Cerebellum - these cells coordinate voluntary movements

307
Q

What type of cells mainly make up the hippocampus?

A

Pyramidal cells

308
Q

What type of cell makes up 60-70% of all neurones in the cortex?

A

Pyramidal cells

The rest are non-pyramidal cells (granular/stellate cells). There are two types of non-pyramidal cell, one excitatory (glutamate), and one inhibitory (GABA).

309
Q

The statistical method used to determine the pattern of inheritance of a particular trait within a family is known as:

A

Segregation Analysis

310
Q

What study method is used in genetics to test for a non-random association between a specific allele and a trait or disease?

A

Association Studies

311
Q

CB1 and CB2 are what kind of receptor?
Which is more common in the CNS?

A

G-Protein coupled, primarily coupling to inhibitory G proteins

CB1 - more in CNS - particularly abundant in cortex, basal ganglia, hippocampus, and cerebellum.

CB2 - less in CNS - primarily present in microglia and vascular elements.

312
Q

What are the 2 main endocannabinoids and what receptors do they have effects at?

A

1) anandamide (arachidonoyl ethanolamide)
- partial agonist at CB1 and CB2 (low efficacy agonist at CB1 receptors and a very low efficacy agonist at CB2 receptors).

2) 2-arachidonoyl glycerol (2-AG)
- high efficacy agonist for both CB1 and CB2 receptors.

313
Q

What type of molecule is THC (delta-9-tetrahydrocannabinol)?

A

Exogenous cannabinoid

314
Q

What is the estimated heritability for:
1) ADHD
2) Autism
3) Schizophrenia
4) Bipolar

A

1) 70-80%
2) 80-90%
3) 80%
4) 60-80%

315
Q

What gene is most consistently implicated in ADHD?

A

DRD4 - Dopamine D4

316
Q

What is the estimated heritability for:
5) Anorexia
6) Alcohol dependence
7) OCD
8) Major depression

A

5) 35%
6) 40-60%
7) 40-60%
8) 30-40%

317
Q

Name the 10 main hypothalamic nuclei - 3 main categories

A

Suprachiasmatic

Preoptic
Arcuate

Paraventricular and Supraoptic

(ABOVE 5 all = endocrine function)

Anterior and Posterior
Lateral (3x limbic)

Dorsomedial and Ventromedial (2 x autonomic)

318
Q

What is the function of the following hypothalamic nuclei:

  • Dorsomedial and Ventromedial
  • Lateral
A

LIMBIC function - body-weight regulation

Lateral - hunger centre - stimulation = increased appetite, lesions = anorexia

Dorsomedial - (stimulates appetite and sensitive to leptin, stimulates GI tract), emotion (rage), libido, circadian activity. Stimulation = obesity, savage behaviour

Ventromedial - Body-weight regulation (satiety centre), sexual behaviour, insulin regulation. Lesions = hyperphagia

319
Q

What is the function of the following hypothalamic nuclei:

Anterior and Posterior

A

THERMOREGULATION i.e AUTONOMIC function

Anterior - keeps you cool, therefore lesions = hyperthermia

Posterior = opposite

320
Q

What is the function of the following hypothalamic nuclei:

Paraventricular and Supraoptic

A

Endocrine function:

WATER BALANCE - lesions here can cause DI
OXYTOCIN REGULATION - PV
ADH release - SO

They send these hormones to the POSTERIOR PITUITARY

321
Q

What is the function of the following hypothalamic nuclei:

Arcuate
Preoptic

Suprachiasmatic

A

Arcuate = DOPAMINE RELEASE
Contains DOPA-ergic neurones that inhibit prolactin release. Lesions = galactorrhoea, amenorrhoea.
Note: also sensitive to LEPTIN

Preoptic - Regulates the release of gonadotropic hormones
Lesions pre-puberty = arrested sexual development. Lesions post-puberty = impotence, amenorrhoea. Also, thermoregulation.

Suprachiasmatic = SLEEP/ RHYTHM REGULATION - receives input from the retina. Sends hormones to the pineal gland to stimulate melatonin release

322
Q

Which brain area is associated with moral judgement?

A

The ventromedial prefrontal cortex (vmPFC) is a part of the brain that has been implicated in the processing of risk, fear, decision-making and moral judgements.

323
Q

Which area of the brain is associated with working memory?

A

Working memory is primarily associated with the dorsolateral prefrontal cortex (dlPFC),

324
Q

What are the 3 layers of the cerebral cortex?

A
  • Archicortex - oldest part of the cortex, connects the limbic system to the cortex
  • Paleocortex - associated with the olfactory system
  • Neocortex - accounts for 90% of the cortex (associated with higher functions like thought and language)
325
Q

Crossing over takes place in which phase of Meiotic division?

A

Prophase I

326
Q

In which stage of mitosis do the chromosomes become aligned at the middle of the cell?

A

Metaphase (They MET in the MIDDLE)

327
Q

DNA replication occurs during which stage of the cell cycle?

A

Interphase

328
Q

At which stage of mitotic division do paired chromosomes separate and begin moving to opposite ends of the cell?

A

Anaphase - they move Apart (A)

329
Q

What are the 6 stages of mitosis in order?

A

Prophase
Prometaphase
Metaphase
Anaphase
Telophase
Cytokinesis

330
Q

At which stage in mitotit division do chromatids arrive at opposite poles of the cell and new nuclear membranes begin to form around them?

A

Telophase - they;re now far away and have to TELePHone each other

331
Q

What happens in Prophase and Prometaphase in mitosis?

A

Prophase - Chromatin condenses and becomes visible as chromosomes

Prometaphase - The nuclear membrane dissolves and microtubules become attached to the centromeres

332
Q

What is the blood supply of the caudate nucleus?

A

Anterior and Middle cerebral arteries

333
Q

Which neuroplastic effect is most reliably observed in patients undergoing ECT?

A

Increased hippocampal volume (Increased hippocampal brain-derived neurotrophic factor (BDNF) levels)

334
Q

What is the falx cerebri?

A

A layer of dura matter that separates the two cerebral hemispheres

335
Q

Secreted by the stomach, this hormone has a paracrine effect and inhibits the release of hydrochloric acid.

A

Somatostatin

336
Q

This hormone is secreted by the cells in the duodenum when they are exposed to the acidic contents of the emptying stomach

A

Secretin

337
Q

This hormone stimulates the exocrine cells of the stomach to secrete gastric juice

A

Gastrin

338
Q

3 types of MS and their relative percentages:

A

Primary Progressive - least common - 5-10%
Relapsing-remitting - 20-30%
Secondary progressive - most common - 60%

339
Q

3 occular features of MS:

A
  • Optic neuritis (unilateral visual loss)
  • Internuclear ophthalmoplegia (diplopia and/or nystagmus due to a problem arising from the midbrain)
  • Ocular motor cranial neuropathy (e.g. sixth nerve palsy)
340
Q

Cortical thinning in which area is the most characteristic finding in bipolar disorder?

A

Ventrolateral prefrontal cortex.

341
Q

Which gait abnormality is seen in Parkinson’s?

A

Festinating gait - short, jerky steps

342
Q

What do fractional anisotropy results in individuals with bipolar disorder indicate? (DTI scan)

A

Reduced white matter integrity in the white matter tracks of the corpus callosum (and cingulum)

343
Q

What structural changes can be seen in the grey matter of patients with bipolar?

A

Higher:bilateral ventricular volumes
Lower: (HAT)
hippocampal volumes
amygdala volumes
thalamic volumes

344
Q

What genetic testing method allows for the screening of thousands of genes at once, and screens for copy number variations, gene expression levels, and SNPs i.e a variety of genetic abnormalities at one time
e.g in early onset schizophrenia

A

Microarray analysis

345
Q

Which neural circuit is considered to be most relevant to the pathology of OCD?

A

Cortico-striato-thalamo-cortical (CSTC) Circuit.

346
Q

What does the proteosome do?

A

The proteosome function is to degrade endogenous proteins (i.e. proteins manufactured by the cell).

Proteins are tagged for degredation by ubiquitin

347
Q

How does the nucleus accumbens play a role in drug addiction?

A

The nucleus accumbens plays a central role in the neural circuitry of drug addiction by integrating highly specific information about the environment and past experience.
Important component of the brain’s reward circuit

348
Q

What is absent on EEG in Fatal Familial Insomnia?

A

Sigma waves (normally seen in Stage 2 sleep)

349
Q

When does somnambulism happen?

A

Somnambulism = sleepwalking

It happens during deep nREM sleep, typically during the first half of the night

350
Q

Cataplexy vs Catalepsy:

A

Cataplexy is a sudden, brief loss of voluntary muscle tone triggered by strong emotions, such as laughter, surprise, or anger. In some cases, sudden loud noises could also trigger an episode. It is a characteristic symptom of narcolepsy, a sleep disorder.

‘Catalepsy’: Catalepsy is a condition where a person maintains body positions for long periods, it is not the sudden collapse due to a stimulus.

351
Q

Which type of sensory information projects straight to the cortex without passing through the thalamus?

A

Olfactory

This is clinically relevant as olfactory pathways have a direct link to limbic structures, which are involved in emotion and memory.

352
Q

4 types of Primary Afferent axons:

A

A-alpha - proprioception
A-beta - touch
A-delta - pain and temp
(A’s are myelinated)

C - pain, temp, itch
(C = unmyelinated so slow, dull, longer lasting, second pain.)

353
Q

What is the MAIN blood supply of the corpus callosum?

A

Anterior Cerebral Artery (Also others)

354
Q

What is the only extraoccular muscle innervated by the trochlear nerve?
What movements?

A

Superior Oblique
- depression (and rotation)

355
Q

What is the only extraoccular muscle innervated by the abducens nerve?
What movements?

A

Lateral rectus
- Abduction

356
Q

In PTSD, what findings are there on EEG during sleep? x3

A

1) increase in S1 NREM sleep
2) decreased slow wave sleep
3) increased eye movements during REM

357
Q

What area of the brain is targeted during transcranial magnetic stimulation in:
1) OCD
2) major depression

A

1) orbitofrontal
2) left frontal

358
Q

In what condition are the following areas stimulated in DBS?
1) Internal globus pallidus and subthalamic nucleus
2) internal capsule (and subthalamic nucleus)
3) subcallosal cingulate
4) ventromedial thalamus

A

1) Parkinsons
2) OCD (treatment resistant)
3) treatment resistant depression
4) tourettes

359
Q

How is GABA formed?

A

Glutamate is catalysed by glutamase decarboxtlase (GAD)

360
Q

Activation of microglia, reduced CSF 5-HIAA and Tryptophan Hydroxylase polymorphism are seen in:

A

Suicidality

361
Q

Anterior insula activation is seen in:

A

Substance Use Disorders

362
Q

Re: animal models of psychiatric disorders, in what condition are the following seen:
1) BDNF haploinsufficient mice
2) Circadian rhythm disruption and
3) ERK knockout

A

Bipolar Disorder

363
Q

Re: animal models of psychiatric disorders, in what condition are the following seen:
1) maternal separation
2) Social defeat
3) chronic defeat and
4) olfactory bylbectomised rat

A

Depressive Disorder

364
Q

Mutations in the SHANK3 gene on c.22 are associated with which condition?

A

Autism spectrum

365
Q

What area of the brain has increased blood flow in depression?

A

Anterior Cingulate Cortex - area implicated in modulation of emotional behaviour

366
Q

Changes to the medial temporal lobe, midline diencephalon and hippocampus are likely to relate to what?

A

Amnesia

Paper A - MRCPsych (6 decks)

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