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Neuro > Week 5 > Flashcards

Week 5 Flashcards

1
Q

Describe the Molecular theory of aging

A

Age related genetic regulation by epigenetic modifications
Gene methylation
Histone modification
Accumulations of mutations

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2
Q

Describe the Cellular theory of aging

A

Telomere shortening - progressive loss of chromosome “caps”
Free radical damage to DNA
Apoptosis

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3
Q

Describe the Environmental and Evolutionary theory of aging

A

“Wear and tear” - inability to regenerate damaged tissue
Cumulative UV and ionising radiation damage
“Disposable soma” ie no evolutionary advantage in survival beyond reproduction and child rearing

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4
Q

What is Frailty?

A

A clinically recognisable state of increased vulnerability resulting from aging - associated decline in reserve and function across multiple physiologic systems such that the ability to cope with everyday or acute stressors is comprised

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5
Q

What are the 3 phenotypes of Frailty?

A

Robust
Pre-Frailty
Frailty

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6
Q

What is the leading cause of sight impairment in the UK?

A

Age-related macular degeneration

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7
Q

What are some risk factors for Corneal Ulcers?

A

—Contact lenses—
Herpes
Steroid drop use
Dry eyes

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8
Q

What are some risk factors for Cataracts?

A

—Age—
Diabetes
Trauma
Inflammation

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9
Q

What may cause an abnormal retinal reflex?

A

Anything obstructing the path of light from front to back of eye

Corneal scar
Cataract
Vitreous Haemorrhage
—Retinoblastoma—

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10
Q

What is the “2-hit” hypothesis in relation to Retinoblastoma?

A

The RB1 gene if damaged hereditarily will lead to bi lateral and early presentation

Non-hereditary with “2-hits” to the RB1 gene will be unilateral and present later

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11
Q

Describe Diabetic Retinopathy

A

Reduced vision due to:
Growth of new vessels, Vitreous haemorrhage, tractional retinal detachment and rubeotic glaucoma
Leakage of fluid from damaged vessels; Macular oedema w/ loss of central visual acuity

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12
Q

Describe Retinopathy of prematurity

A

Retinopathy due to early birth not giving enough time for the eyes blood vessels to develop

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13
Q

What are the 2 types of Age-related Macular Degeneration and which one can’t really be directly treated

A

Dry and Wet
Dry can’t be directly treated

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14
Q

How do we treat WET age-related macular degeneration?

A

Inject anti-VEGF

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15
Q

What are some causes of swollen discs?

A

Raised ICP
Space occupying lesion (brain tumour)
Hydrocephalus

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16
Q

What is the main sign of Glaucoma?

A

Cupped disc

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17
Q

What is Glaucoma most commonly associated with?

A

Raised intra ocular pressure (IOP)

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18
Q

What are some symptoms of a 3rd CN Palsy?

A

Vertical diplopia
Eye is “down and out”
Pupil dilated and ptosis
May be due to aneurysm

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19
Q

What are some symptoms of a 4th CN Palsy?

A

Oblique diplopia
Head tilt away from side of lesion
Diplopia on adduction
Common after head injury

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20
Q

What are some symptoms of 4th CN Palsy?

A

Horizontal diplopia
Worse in far distance
Worse toward side of palsy if unilateral
Bilateral - concerned about raised ICP

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21
Q

Define dementia

A

General term for loss of memory, language, problem-solving and other thinking abilities

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22
Q

What are some risk factors for dementia?

A

Sex
Ethnicity
Genetics
Amount of Cognitive reserve
Lifestyle choices

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23
Q

What are some symptoms of Early stage Alzheimer’s disease?

A

Loss of memory of recent events
Poor orientation
Difficulties concentrating and planning
Language
Mood

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24
Q

What are some symptoms of Middle stage Alzheimer’s disease?

A

Worsening memory problems
Difficulties toileting (soiling selves)
Difficulty recognising people

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25
Q

What are some symptoms of Late stage Alzheimer’s disease?

A

Severe memory difficulties
Significant problem recognising faces
Communication can be very difficult
Behavioural changes
Psychosis

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26
Q

What may the patient experience upon being diagnosed with Dementia?

A

Shock
Relief (know cause of symptoms)
Disbelief
Anxiety
Fear, Grief, Hopelessness

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27
Q

What is the difference between a benign and malignant tumour?

A

Benign is non-invasive where as malignant is invasive

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28
Q

The most common tumours in the brain are what?

A

Metastatic

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29
Q

What may be some symptoms of a space occupying lesions?

A

Fits
Visual
Drowsiness
Behavioural changes

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30
Q

What specific kinds of Lung cancer may metastasize to the brain?

A
  • Small cell undifferentiated
  • Squamous
  • Adeno
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31
Q

What kinds of cancer may metastasize to brain?

A

Lung
Breast
Gastric
Colorectum

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32
Q

What are Meningioma’s?

A

At sites of arachnoid matter
Grossly, well demarcated
Slow growing

Non invasive, but erosive and compressive

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33
Q

What are some symptoms and treatment for Meningioma’s?

A

Fits, Drowsiness, Headaches

Surgical removal

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34
Q

What are the subtypes of Glioma’s?

A

Astrocytomas
Oligodendroglioma
Ependymoma
Choroid plexus tumours

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35
Q

What is an issue with treating Glioma’s?

A

Present so late that by the time you’re aware of them, surgical removal is no longer viable
Have to use radiotherapy

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36
Q

Are Glioma’s always Benign, or always Malignant?

A

Always Malignant

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37
Q

When diagnosing different types of Glioma’s, what may be used to help tell what kind of Glioma it is?

A

Molecular genetic testing

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38
Q

What are some Peripheral nerve tumours?

A

Schwannoma
Neurofibroma
Neural - Neuroblastoma, Ganglioneuroma

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39
Q

Where are schwannomas?

A

Myelinating Schwann cells
Outside neuron, within perineural sheath pressing on nerves

40
Q

Where are Neurofibroma’s?

A

Grow on the nerve

41
Q

Describe Neurofibromatosis 1

A

Autosomal Dominant
50% Spontaneous

42
Q

Describe Neurofibromatosis 2

A

Bilateral acoustic Schwannoma

43
Q

What actually happens structurally to the brain as a result of Huntington’s disease?

A

Atrophy of Caudate nuc. and Putamen

44
Q

What are the issues with altered Polyglutamine in Huntington’s disease?

A

Protein misfolds
Aggregates
Inclusion bodies

45
Q

Describe fragile X syndrome

A

Single gene disorder on the X chromosome

1/4000 males
1/8000 females

46
Q

Describe some symptoms of Fragile-X phenotype

A

Long face
Mitral valve prolapse
Learning difficulties
ADD
Autistic like behaviour

47
Q

What issue of the gene leads to Fragile X syndrome?

A

Trinucleotide repeat in 5’ non-coding region

48
Q

What is the function of FMR1 protein?

A

Highly expressed in neurons
Regulates mRNA translation in dendrites

49
Q

What are 3 main examples of trinucleotide repeat diseases?

A

Huntington’s
Fragile X
Myotonic Dystrophy

50
Q

What are two signs on the cellular level for Alzheimer’s disease?

A

Extracellular Plaques of Beta amyloid
Intracellular Tangles of hyperphosphorylated Tau proteins

51
Q

Describe what happens in abnormal function of Amyloid precursor protein (APP)

A

Cleavage of APP creates Amyloid beta peptides that form oligomer aggregates

51
Q

Mutations in what are associated with early onset Alzheimer’s disease?

A

Presenilin 1 and 2
Affect activity of gamma-secretase

52
Q

Describe function of ApoE

A

Cholesterol transport
Clears amyloid beta

53
Q

What are the 3 alleles of ApoE?

A

E2, E3 and E4

54
Q

What is the relation between the alleles of ApoE and Alzheimer’s diseaes?

A

Heterozygotes for E4 have 4 fold risk
Homozygotes for E4 have 15 fold risk

55
Q

What is the function of Tau protein?

A

Binds and stabilises microtubules (in neurons)

56
Q

Describe Prion Diseases

A

Transmissible spongiform encephalopathy

57
Q

What are 3 examples of Prion diseases?

A

Creutzfeld-Jakob disease
Fatal familial insomnia
Kuru

58
Q

Describe a Prion

A

Proteinaceous
Infectious
Carries no genetic material

59
Q

What forms of therapy can be used for Prions?

A

Stabilising PrP^C conformation
Clearance of PrP^SC
Vaccination against PrP^SC

60
Q

What are the 2 muscles responsible for accommodation of pupil?

A

Dilator pupillae
Sphincter pupillae

61
Q

With asymmetrical pupils, what may cause larger pupils?

A

3rd nerve palsy
Sphincter damage
Drugs

62
Q

With asymmetrical pupils, what may cause smaller pupils?

A

Horner’s syndrome
Uveitis
Drugs

63
Q

What is the main sign of Glaucoma, and what is it often associated with?

A

Cupping
Raised intraocular pressure

64
Q

What layers of the Lat. Geniculate nuc. receive ipsilateral and contralateral?

A

Ips. - 2, 3, 5
Cont. - 1, 4, 6

65
Q

Describe Magnocellular ggl. cells

A

Large axons (lots of myelin) Fast
Receive info from large no. of photoreceptors
Movement, brightness, depth perception
Project to parietal lobes

66
Q

Describe Parvocellular ggl. cells

A

Thin axons (less myelin) Slow
Receive info from small no. of photoreceptors
Detail of objects assisting in recognition
Project to temporal lobes

67
Q

What is the function of the Occipital lobe?

A

Relay station
Retinotopic map
Neural tuning responds to:
1. colour
2. spatial frequency
3. orientation

68
Q

What is the most common cause of Amblyopia?

A

Uncorrected refractive error in ONE eye

69
Q

What are some treatments for Amyblyopia?

A

Patching
Glasses
Corrected squint

70
Q

What eye issues may lead to a retinal lesion?

A

AMD
Diabetic eye disease
Retinal detachment

71
Q

What issues may lead to a Chiasmal lesion?

A

Pituitary tumour
Craniopharyngioma

72
Q

What issues may lead to post Chiasmal lesions?

A

Stroke
Space occupying lesions
(Tumours + Bleeds)

73
Q

What are the two separate functional streams of visual information?

A

‘What’
and
‘Where’

74
Q

Give some examples of common Motor neuron diseases

A

-Amyotrophic Lateral Sclerosis (ALS)
-Progressive Bulbar Atrophy
-Primary Lateral Sclerosis
-Spinal Muscular Atrophy

75
Q

What makes up a Motor Unit?

A

Motor neurons
and
group of innervated muscle fibres

76
Q

What are the 4 types of Motor Unit Disorders?

A
  • Motor Neuron Disease
  • Peripheral Neuropathies
  • Diseases of the NMJ
  • Primary Muscle Disease
77
Q

How would the origins of 90% of ALS cases be described?

A

Sporadic

78
Q

Describe ALS

A

Disease is linked with loss of LMNs in both the Bulbar and spinal cord, and in the UMN, spinal cord, brainstem and the cortex
Leads to cramps and weakness on one side followed by the other
Ultimately patient can’t breathe and dies

79
Q

What are some signs of ALS?

A

Focal weakness and clumsiness
Painful fasciculations / cramps
UMN and LMN signs
Dysarthria, Dysphasia or respiratory issues

80
Q

What often degenerates in ALS?

A

Corticospinal tracts
(B - mild C - severe)

81
Q

Describe the pathology of Alzheimer’s disease

A

65+ y/o
Neuronal cell death in Entorhinal cortex and Hippocampus
Cortical atrophy
Amyloid plaques + hyperphosphorylated tau

82
Q

What percentage of Alzheimer’s disease are Sporadic or Familiar

A

Sporadic - 90%
Familiar - 10%

83
Q

What is Braak staging?

A

Pathological, post-mortem assessment of tau neurofibrillary and beta-amyloid progression based on brain anatomical distribution

84
Q

Describe the pathology of Parkinson’s disease

A

Neuronal loss in substantia nigra
degeneration of nigrostriatal tract
Profound loss of dopamine in basal nuc.

85
Q

Describe Prion disease in spongiform Encephalopathies

A

Caused by a misfolded cell surface protein - causes cells and proteins to clump together resulting in death
Most common form is Creutzfeldt-Jakob disease (CJD)

86
Q

What are the 3 types of CJD (Creutzfeldt-Jakob disease)?

A

Familial
Sporadic
Acquired

87
Q

What are some symptoms of CJD?

A

Rapidly developing dementia
Difficulty walking
Muscle stiffness and fatigue
Speech problems

88
Q

Describe Multiple Sclerosis

A

Autoimmune disease of CNS
Immune cells phagocytose myelin
Signal transmission is slowed
Proprioceptive info doesn’t synchronise w/ motor output
Muscle fatigues and patients find it difficult to control movement

89
Q

What are some clinical presentations of MS?

A

Depends on area affected:
Optic Nerve - visual field
Corticobulbar - speech swallowing
Corticospinal - muscles strength
Cerebellar - gait coordination
Spinocerebellar - balance

90
Q

Give some examples of Inherited muscle diseases

A
  • Dystrophies
  • Congenital myopathies
  • Metabolic
  • Myotonic
91
Q

Give some examples of acquired muscle diseases

A

Inflammatory
Toxic (alcohol)
Metabolic
Disuse atrophy

92
Q

Describe Duchenne Muscular Dystrophy

A

X-linked recessive trait that affect male in early childhood
Mutation in DMD gene

93
Q

Describe the clinical presentation of DMD (Duchenne Muscular Dystrophy)

A

Onset 3-5 years
Muscle weakness begins in pelvic girdle and progresses to shoulders
Cardiac muscle damage and fibrosis
High serum level of creatine kinase at birth and childhood

94
Q

Glioma Grading

A
95
Q

What is needed before you get Abeta deposition in Alzheimer’s?

A

Both APP mutation and PSEN1/2 mutation
Activates both beta and gamma secretase enzymes respectively

Neuro (14 decks)

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