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Neurology, Neuroscience, Genetics Flashcards

1
Q

Where does the basilar artery run? How would a basilar infarct present?

A

The basilar artery runs along the anterior median grove of the pons. A basilar infarct presents with locked in syndrome - characterized by quadriplegia with preserved reticular formation, intact vertical eye movement, and intact blinking.

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2
Q

How would an infarct involving the posterior inferior cerebellar artery (PICA) & vertebral artery present?

A

Lateral medullary syndrome. Ipsilateral manifestations - facial loss of pain/temp, ataxia, hoarseness, dysphagia, and Horner syndrome. Contralateral - pain/temp hemisensory loss. Additional signs will be N/V, nystagmus, vertigo. Pay attention to voice changes, swallowing difficulties, ataxia/nystagmus, and vertigo.

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3
Q

How would an infarct involving the anterior inferior cerebellar artery (AICA) present?

A

Lateral pontine syndrome. Ipsilateral manifestations - facial paralysis, loss of lacrimation, decreased salivation, loss of corneal reflex, loss of sensation to anterior 2/3 of tongue, Horner syndrome, sensorineural hearing loss, loss of facial pain/temp. Contralateral - pain/temp hemisensory loss. Pay attention to multiple signs of cranial nerve involvement.

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4
Q

Pathognomonic sign of a posterior cerebral infarct

A

Contralateral homonymous hemianopia with macular sparing. “partial loss of vision in the same half of both eyes with the center of the visual field preserved”

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5
Q

Pathognomonic sign of a posterior communicating artery infarct

A

Ipsilateral compression leading to CN III palsy (down and out eye, mydriasis)

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6
Q

For what disease is a pallidotomy indicated for?

A

Pallidotomy is carried out for advanced Parkinson’s disease by ligating the anterior choroidal artery. Anterior choroidal is a terminal branch of the internal carotid artery and supplies the globus pallidus and caudate nucleus. The infarction of the globus pallidus is considered the therapeutic mechanism behind pallidotomy. Pallidotomy is usually done unilaterally due to potential severe adverse effects of a bilateral pallidotomy.

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7
Q

Where is the locus coeruleus located? What does it contain? What psychological process is activation of this area involved in?

A

It is located in the located in the upper dorsolateral pontine tegmentum. It is the principal source of norepinephrine-containing neurons. It is involved in anxiety and panic –> activation of LC leads to increased NE release which in turn leads to activation of amygdala, neocortex, hypothalamus, hippocampus, cerebellum, and thalamus.

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8
Q

How does Juvenile Huntington’s disease present? How does this differ from adult onset? How is Juvenile Huntington’s disease inherited?

A

1&2) Dystonia and seizures (vs adult-onset with chorea)
3) Autosomal dominant from father (most commonly) due to anticipation (larger allelic expansion exclusively with paternal transmission)

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9
Q

How does radial nerve mononeuropathy present?

A

1) “Saturday Night Palsy”. Occurs when a person - typically in an alcohol-induced stupor - leans their upper arm against a chair for several hours, compressing the radial nerve.
2) Wrist drop, with paresis in supination of forearm and extension of all 5 MCP joints. Sensory loss along extensor surface of arm/forearm, back of hand, dorsum of fingers.

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10
Q

Which structure divides the hindbrain into the myelencephalon and metencephalon

A

Pontine flexure

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11
Q

Diagnostic criteria for fibromyalgia

A

1) Pain for at least 3 months
2) Pain involves 11 out of 18 points

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12
Q

Imaging findings in Progressive Multifocal Leukoencephalopathy (PML)?

A

Multifocal areas of demyelination more prominent in subcortical white mater. Random distribution.

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13
Q

Imaging findings in Multiple Sclerosis?

A

1) Lesions appear hyperintense on T2 and FLAIR with enhancement of acute lesions
2) Involves white matter, often ovoid
3) May have demyelinating periventricular plaques (Dawson’s fingers)

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14
Q

What type of brain tumor is a Glioblastoma Multiforme (GMB)? How does it appear on imaging?

A

1) Astrocytoma
2) Involves cerebral hemispheres. Mixed density mass. Can be unilateral OR can cross corpus callosum (butterfly glioma)

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15
Q

Pain and temperature sensation is carried by what spinal cord pathway?

A

Lateral spinothalamic tract

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16
Q

Coarse touch and pressure sensation is carried by what spinal cord pathway?

A

Anterior spinothalamic tract

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17
Q

What are the two fiber groups within the spinal cord that are responsible for carrying proprioceptive and fine touch sensations? How do they differ? What tract do they both run within?

A

1) Fasciculus gracilis and Fasciculus cuneatus
2) Fasciculus gracilis (trunk and lower extremities) / Fasciculus cuneatus (trunk and upper extremities)
3) Dorsal column of the spinal cord

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18
Q

What are the most common causes of sensory neuronopathy/dorsal root ganglionopathy (4)? What about causes from toxicity (2)? How does this present?

A

1) Paraneoplastic disease, Sjögren’s syndrome, HIV associated, and idiopathic sensory neuronopathy.
2) Cis-platinum toxicity, Vitamin B6 (pyridoxine) toxicity
3) DRAMATIC loss of proprioception (so more than just gait instability) with significant vibration loss. Pan-modality sensory loss in affected extremities. PRESERVED MOTOR STRENGTH!

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19
Q

Post-stroke depression is associated with a lesion in which brain region?

A

Left frontal lobe

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20
Q

What is the triad found in Lennox-Gastaut syndrome?

A

1) Multiple seizure types (usually including generalized tonic-clonic, atonic, and atypical absence seizures)
2) EEG showing spike and slow-wave discharges (< 2.5 Hz) 3) Impaired cognitive function in most but not all cases

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21
Q

EEG finding in Juvenile Myoclonic Epilepsy VERSUS Absence seizures

A

1) Juvenile Myoclonic Epilepsy –> 3-6 Hz generalized polyspike and wave discharge
2) 3 per second generalized spike AND slow wave discharge

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22
Q

Genetic cause of Adrenoleukodystrophy? What is the presentation?

A

1) Abnormality in the ABCD1 gene located on the X-chromosome (so predominantly affects males) –> leads to accumulation of very long chain fatty acids in peroxisomes
2) Diffuse brain demyelination, progressive cognitive impairment, spasticity, and weakness. Also may have concurrent adrenal insufficiency –> hyponatremia and hyperkalemia

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23
Q

What enzyme is found in low levels in plasma in patients with conduct disorder?

A

dopamine B-hydroxylase (converts dopamine to NE) –> leads to the decreased noradrenergic functioning implicated in conduct disorder

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24
Q

Genetic mutation commonly found in FTD? What chromosome is it linked to? What is the inheritance pattern?

A

1) Microtubule-associated protein tau (MAPT)
2) Chromosome 17 (FTDP-17)
3) Autosomal Dominant (50% of passing altered gene to progeny)

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25
Lambert-Eaton syndrome, Malignant hyperthermia, hypokalemic periodic parlysis, and familial hemiplegic migraine are all caused by defects it what ion channels?
Calcium Channel Systems
26
Benign familial neonatal convulsions result from defects in what type of ion channels?
Potassium
27
The Papez circuit connects the ____ to the mamillary body via the ____ ; then from the mamillary body to the ___ , ____, _____, and back to the ______.
1) Hippocampus 2) Fornix 3) Thalamus 4) Hypothalamus 5) Cingulate gyrus/cortex 6) Hippocampus
28
While considered part of the limbic system, the Papez circuit does not include the ____. The primary function of the Papez circuit?
1) Amygdala 2) Cortical control of emotion and memory storage and contains centers that regulate aversion and gratification.
29
What is the defect and inheritance mechanism of phenylketonuria (PKU)? What are the characteristic features?
1) Deficiency in phenylalanine hydroxylase (chromosome 12) 2) Autosomal recessive 3) Intellectual disability, microcephaly, "mousy" odor, infantile spasms, and light hair/skin pigmentation.
30
Overstimulation of D2 receptors in the _____ leads to tics and extraneous motor movements. Blockade of these receptors lead to ____.
1) Caudate (caudate neurons regulate motor activity by determining which motor acts get carried out) 2) Bradykinesia (as in Parkinson's disease)
31
Carotid endarterectomy is indicated for symptomatic ICA stenosis of greater than ____ %
70%
32
What is the inheritance pattern of Duchenne's and Becker's muscular dystrophy?
X-linked (locus Xp21 on the short arm of the X chromosome)
33
What is the rate limiting enzyme in dopamine synthesis?
Tyrosine hydroxylase (converts L-tyrosine to L-DOPA_
34
What is the most common myopathy over the age of 50? Which muscles are preferentially affected? How does it present?
1) Inclusion body myositis 2) Affects STRENGTH of distal muscles of arms and legs. Preference to wrist and finger flexors, and quadriceps. 3) WEAKNESS (no pain). Chronic, progressive weakness that is poorly responsive to steroids or immunosuppressive agents
35
Compression of what nerve results in meralgia paresthetica? How does this present?
Compression of the lateral femoral cutaneous nerve as it passes beneath the inguinal ligament. Pain and sensory loss (numbness) to the lateral thigh. No motor deficits. Seen in obesity, pregnancy, and too tight pants/heavy belt.
36
What is the most common cause of metastasis to the brain?
Lung cancer (accounts for 2/3 of all brain mets, particularly non-small cell)
37
What is the characteristic triad of Tabes dorsalis?
Sensory ataxia, lighting pains, urinary incontinence.
38
Tropical spastic paraparesis is a chronic progressive _____ associated with infection by ______. It is characterized by upper motor neuron weakness, bladder disturbance, and sensory loss.
1) Myelopathy 2) Human T-Lymphotropic virus type 1 (HTLV-1)
38
What is Todd's paralysis?
Brief period of transient hemiparesis or hemiplegia after a seizure. Temporary, resolve within 48 hrs.
39
Four examples of neurodegenerative disorders associated with trinucleotide repeats? What are the anticipation patterns for each?
1) Fragile X syndrome (CGG repeat); Maternal anticipation 2) Myotonic dystrophy , type 1 (CTG repeat); Maternal anticipation 3) Friedrich's ataxia (GAA repeat); paternal anticipation 4) Huntington's disease (CGG repeats); paternal anticipation
40
What is the "battle sign"?
Hematoma overlying the mastoid that results from a basilar skull fracture.
41
Triphasic waves on EEF are characteristic of what?
Hepatic or metabolic encephalopathy
42
What is a common cause of Kluver-Bucy syndrome?
Pick's disease (FTD)
43
What is the genetic abnormality in Klinefelter's syndrome? What are the clinical features?
1) Extra X chromosome (XXY) 2) Small dysfunctional testes, intellectual disability, pear-shaped stature.
44
What is the genetic abnormality in Prader-Willi syndrome? How does it present?
1) Deletion on the paternal chromosome 15 2) Profound intellectual disability, hypogonadism, hypotonia, behavioral disinhibition, rapid and excessive weight gain, and facial dysmorphism.
45
What are the neurochemical findings associated with intermittent explosive disorder (3)?
Decreased cerebral serotonergic transmission, low CSF levels of 5-hydroxyindolacetic acid, and high CSF testosterone in men.
46
What is the primary (most important) mechanism in removing dopamine from the SYNAPTIC cleft?
Neuronal reuptake by DAT
47
What are common findings to look out for in subacute combined degeneration? What mineral deficiency can mimic it?
1) Signs of both central/peripheral neuropathy – so complaints of loss of sensation with mild weakness. On exam, increased reflexes, loss of proprioception/vibration senses, upgoing toes, ataxia. 2) Copper deficiency! (seen in patient’s post-gastric bypass or in patient’s taking excess zinc – as zinc and copper are absorbed via the same transporter
48
What is the prolactin level that warrants referral from brain MRI?
Levels over 118
49
Classic presentation of transverse myelitis?
RAPID onset of bilateral leg weakness that presents with a clear-cut sensory level below the level of the lesion (pain and temp usually affected). Urinary and/or bowel incontinence usually present.
50
Prosopagnosia is classically associated with what lesion? What other findings would occur with this lesion?
1) Bilateral occipital-temporal lesions 2) Agraphia and achromatopsia (inability to recognize colors and hues)
51
Anosognosia, or the denial of disease or hemiparesis, is seen with lesions where?
Lesions of the nondominant hemisphere
52
What is the most frequent viral pathogen associated with Bell’s palsy?
HSV
53
How to differentiate facial paralysis in Bell’s palsy versus hemispheric stroke?
Hemispheric strokes result in facial paralysis that spares the upper third of the face (the brow and upper eyelid included) whereas Bell’s palsy involves the whole face.
54
Describe the deficits seen in patients with syringomyelia?
Loss of pain and temperature sensation in a cape or shawl pattern along the arms and upper trunk with lower motor neuron signs (flaccidity, muscular atrophy, fasciculations) at or about the level of the lesion.
55
What is the most common cause of opsoclonus-myoclonus in infants? In adults?
1) Infantile neuroblastoma 2) Lung cancer
56
What is the most common brain tumor in patients older than 60?
Glioblastoma multiforme
57
On neuroimaging, patients with OCD will have abnormalities in what brain areas?
Caudate, thalamus, and orbitofrontal cortex.
58
What is the hallmark of Anton’s syndrome? What is the cause? Where does the lesion localize to?
1) Cortical blindness – patients deny that they are blind and confabulate. They may also suffer from visual hallucinations. They may also have prosopagnosia 2) Usually caused by strokes 3) Lesion to the bilateral occipital lobes, particularly in the calcarine cortex (Brodmann’s area 17) and visual association cortex.
59
What is the most common CNS cancer in patients with AIDS?
Primary CNS lymphoma (B-cell type)
60
The highest rate of synapse formation in the brain takes place during what time period?
Toddlerhood
61
What is the most frequent CNS opportunistic infection in patients with AIDS? When does it present? How does it present on imaging? How is it treated?
1) CNS Toxoplasmosis (usually from a resurgence of a previously acquired infection). 2) Late stages, CD4 count less than 200 3) Single lesion or multiple ring-enhancing lesions 4) Pyrimethamine and sulfadiazine (or clindamycin in sulf-allergic)
62
What is the most common cause of spinal cord pathology in patients with AIDS? How does it present? What are exam findings?
1) HIV-associated vacuolar myelopathy 2) Spasticity, gait instability, lower extremity weakness, loss of proprioception and vibration sensation, and sphincter dysfunction. 3) Spastic paraparesis, hyperreflexia, and babinksi’s sign. B12 levels are normal
63
What causes Progressive Multifocal Leukoencephalopathy (PML)? How does PML present? What are the common imaging findings? What else helps with diagnosis?
1) JC virus (a form of HPV) 2) Hemiparesis, aphasia, sensory deficits, ataxia, and visual field deficits 3) MRI  multiple or coalesced non-enhancing white matter lesions in the PARIETAL OR OCCIPITAL LOBES. 4) CSF assay for the JC virus DNA by PCR
64
What are the three receptor types associated with glutamate?
AMPA, kainite, and NMDA
65
What are the classic symptoms of botulism?
Dysphagia, dysarthria, ptosis, diplopia, and urinary retention. Additionally, GI symptoms such as N/V, and diarrhea occur.
66
What causes Balint’s syndrome? How does it present?
1) Ischemic lesions to the bilateral parietal-occipital lobes (or occipital lobes alone) 2) Ocular apraxia (inability to scan extrapersonal space), optic ataxia (dysmetric or saccadic jerks), deficits in visual attention, simultanagnosia (inability to perceive a scene). May also present with Gerstmann’s syndrome if the dominant parietal lobe affected.
67
What is the symptom combination that comprises Meige’s syndrome?
Blepharospasm (involuntary eyelid blinking) and oromandibular dystonia
68
Lesions to what area result in scanning speech?
Cerebellum (speech is irregular or choppy --> ataxic dysarthria)
69
Emotional memory, or the recall of emotional contexts of specific events and experience of fear/pleasure/other emotions associated with events, localizes to what area?
Amygdala
70
Auscultation of the head that reveals a bruit is a classic hallmark of ________ .
Arteriovenous malformation (AVM)
71
What is the most common presenting symptom of Arteriovenous malformation (AVM)?
Seizures
72
Intermittent headaches and “drop attacks” are caused by what type of tumor? How does it appear on imaging?
1) Colloid cyst 2) Round, well-circumscribed lesion in the anterior aspect of the third ventricle. “Button nose” right in the middle of the ventricular system. Hyperintense due to cholesterol composition.
73
How does Hallervorden-Spatz syndrome present? What are the findings on autopsy? What is the enzymatic deficiency?
1) Childhood onset combination of dementia and parkinsonism 2) Rusty brown discoloration of the medial globus pallidus and substantia nigra (so the basal ganglia) 3) Cysteine dioxygenase  increased levels of cysteine in the brain which chelates iron  leading to iron deposition and free radial formation
74
Acetylcholine is produced by the ______ (nucleus) located in _________ (brain region). It plays an important role in short-term memory, executive functioning, attention, and novelty seeking.
Nucleus basalis of Meynert / Basal Forebrain
75
What type of ion channel is the GABA-A receptor?
CHLORIDE!
76
What is the surrogate marker for low folate levels?
Elevated serum homocysteine levels
77
The gene for amyloid precursor protein is found on what chromosome?
Chromosome 21
78
1) How does a conduction aphasia present? 2) A lesion to which location would result in a conduction aphasia?
1) Dominant hemisphere, the arcuate fasciculus (the connection between Wernicke's and Broca's areas) 2) Speech output is fluent but paraphasic and repetition is IMPAIRED (broken, staccato speech). Naming and WRITING are also IMPAIRED. Comprehension of spoken language is intact. Reading aloud is impaired, but reading comprehension is preserved. May have associated hemisensory loss, hemiparesis, and hemianopsia (ex: on right if right handed)
79
Where is the location of Wernicke's area
Superior temporal gyrus
80
Global aphasia results from lesions to what area?
Area of the MCA territory involving the superior temporal, inferior frontal, and parietal lobes (thrombus at the trifurcation of the MCA)
81
1) A lesion to which area would result in a transcortical aphasia? 2) How would you differentiate a transcortical aphasia from other aphasias (Wernicke's, Broca's, Conduction, Global)?
1) ACA territory (anterior to Broca's area) 2) It is a motor aphasia similar to Broca's aphasia but repetition is SPARED/PRESERVED.
82
Where is the location of Broca's area
Lest posterior inferior frontal gyrus
83
What are the risk factors for pseudotumor cerebri?
High dose steroids, OCP use, tetracycline use, hypervitaminosis A, head trauma
84
Presentation, exam findings, and lab findings in pseudotumor cerebri?
1) Waxing/waning headache with intermittent visual obscurations 2) Papilledema, enlargement of blind spot 3) Elevated opening pressure (over 20) on LP (diagnostic). Imaging often normal but can show slit-like ventricles.
85
Contraindications to r-TPA
1) Major surgery in past 14 days 2) BP over 185/110 3) Bleeding parameters outside of a narrow range 4) CT showing signs of ICH
86
What is the defect in Metachromatic leukodystrophy (MLD)?
Metabolic disorder of myelin that results in a deficiency in arylsulfatase A (ASA) --> leads to segmental nerve demyelination
87
What is the presentation differences in Metachromatic leukodystrophy (MLD) for infants and adults?
1) Infants/Juvenile: Gait disorder with hypotonia and lower-limb areflexia precede CNS involvement 2) Presents with progressive dementia and behavioral disturbances
88
How do you diagnose and treat Metachromatic leukodystrophy (MLD)?
1) MRI + urine assay (increased sulfatide excretion) + abnormal ASA enzyme assay in leukocytes 2) Bone marrow transplant
89
What is the defect in Tay-Sachs disease?
Hexoaminidase A deficiency
90
What is the presentation of Tay-Sachs disease?
Developmental delay, paralysis, dementia, blindness (cherry-red spot) with death in 2nd or 3rd year. Hypersensitivity to loud noise and hyperreactive startle response.
91
What is the classic MRI finding in Frontotemporal dementia?
Preferential atrophy of the frontal and temporal lobes with OCIPITOPARIETAL SPARING (knife-edge)
92
What is the histological findings in Pick's disease?
Ballooned cells with intraneuronal inclusions (Pick cells or Pick Bodies)
93
What is the most clinically definite CSF finding in MS? What is a unique correlation to monosymptomatic patients?
1) Oligoclonal bands (though not sufficient to make the dx alone as elevated in other CSF pathologies) 2) Presence of OCBs in monosymptomatic patients indicates a higher rate of progression of MS than the absence
94
What are surrogate markers for B12 deficiency to check for in equivocal B12 levels?
Elevated homocysteine and methylmalonic acid
95
What are the three H’s of Prader Willi Syndrome (PWS)?
Hyperphagia, Hypogonadism, Hypomentia
96
What neurodevelopmental co-morbidities are patient’s with Prader Willi Syndrome (PWS) at increased risk for?
ASD, ADHD, psychosis/aggresion` (young adults)
97
What are clinical features of Angleman’s syndrome?
MICROCEPHALY, paroxysms of laughter, hyperactivity and autistic features, ID, seizures, rigidity and JERKY movements ("happy puppet")
98
What neurochemical changes are seen with increased aggression?
- Decreased GABA - Decreased serotonin - Increased testosterone (in males) - Increase acetylcholine - Increased dopamine
99
At what age do grasp and tonic neck reflexes dissappear?
By 6 months
100
The major clinical features of Biswanger’s disease are? This is what type of disease process? What is another name for this syndrome?
- Gait disorder, dementia, pseudo-bulbar affect - Subcortical Vascular Dementia (includes WMLs and lacunar infarctions) - Subcortical arteriosclerotic encephalopathy
101
What is a characteristic EMG finding in ALS?
Wide spread fasciculations
102
What is the mechanism of action of the tetanus toxin? What are some clinical characteristics?
1) Inhibits release of GABA and glycine in brain stem and spinal cord 2) Muscle rigidity and spasms, autonomic hyperactivity, trismus, facial contraction (resus sardonicus), dysphagia, laryngospasm
103
What are some biologic markers of pathologic gambling?
- Decreased serum MHPG and increased CSF MHPG - Decreased platelet MAO --> marker of serotongeric dysfunction seen with difficulties with inhibition and impulse control) - Increased urinary NE output
104
What are biologic markers found in conduct disorder?
- Decreased serum dopamine beta-hydroxylase activity (decreased NE functioning) - Greater right frontal EEG activity at rest
105
Dorsiflexion of the food (bending the foot upward) along with extension of the big toe, is linked to which nerve root? A lesion to this nerve root would result in what presentation?
L5 / Foot drop
106
The gastrocnemius and soleus muscles, responsible for foot extension, are innervated by what nerve root (primarily)? This is also responsible for the Achilles reflex
S1
107
The quadriceps, therefore leg extension, is supplied by what nerve roots?
L3/L4
108
Hip flexion is performed by which muscle? What nerve root innervates this muscle?
Iliopsoas / L1, 2, 3
109
What lesion would result in hemiballismus? How would this present?
1) Subthalamic nuclei 2) Contralateral, dramatic flinging movement of the proximal extremity
110
What are the six (6) biogenic amine neurotransmitters? (think of the mnemonic)
*** No HADES*** 1) Norepinephrine 2) Histamine 3) Acetylcholine 4) Dopamine 5) Epinephrine 6) Serotonin
111
What are the catecholamines? What precursor are catecholamines synthesized from?
1) DA, NE, Epinephrine 2) TYROSINE
112
What is the virus that leads to Subacute Sclerosing Panencephalitis (SSPE)?
Measles virus
113
What is the clinical presentation of Subacute Sclerosing Panencephalitis (SSPE)?
1) Children 5-10 years old 2) PERSONALITY and COGNITIVE changes 3) MYOCLONIC seizures 4) Spasticity and CHOREOATHETOID movements 5) DYSPHAGIA 6) Eventual coma and death
114
What are the diagnostic findings of Subacute Sclerosing Panencephalitis (SSPE)? List CSF, Biopsy, and EEG findings.
1) CSF: Elevated measles Ab titer, oligoclonal bands, viral signs 2) Brain Biopsy: Neuronal and glial nuclear and cytoplasmic inclusion bodies 3) EEG: Periodic BURSTS of generalized SLOW-WAVE complexes
115
What is the heritability pattern of Lesch-Nyhan syndrome? What is the deficiency? How does it present? 1) X-linked recessive 2) Disorder of purine and pyrimidine metabolism (deficiency in hypoxanthine-guanine phosphoribosyl transferase àhyperuricemia) 3) Choreoathetosis, hyperreflexia, hypertonia, dysarthria, behavioral disturbances (agitation) , cognitive impairment, self-mutilatory behavior
1) X-linked recessive 2) Disorder of purine and pyrimidine metabolism (deficiency in hypoxanthine-guanine phosphoribosyl transferase --> leading to HYPERURICEMIA) 3) CHOREOATHETOSIS, hyperreflexia, hypertonia, dysarthria, behavioral disturbances (AGITATION), cognitive impairment, SELF-MUTILATORY BEHAVIOR
116
What are the symptoms of Gerstmann’s syndrome? A lesion to what location in the brain would cause this presentation?
1) Agraphia, acalculia, finger agnosia, left-right disorientation. 2) Lesions to the DOMINANT angular gyrus (parietal lobe)
117
What neurotransmitters do MAO-A and MAO-B breakdown?
1) MAO-A --> 5-HT and NE 2) MAO-B --> DA
118
List the showing anticipation associated with Triplet Repeat Expansion. Include their expansions, chromosomal locations of the expansion, and inheritance pattern.
1) Huntington's Disease / CAG / Chromosome 4 / Autosomal Dominant (HD es una CAGada / Huntin’ 4 Food / Dominant begins with ‘D’) 2) MyoTonic Dystrophy / CTG / Chromosome 3 (MD1) or 9 (MD2) / Autosomal Dominant (MyoTonic --> cTg / Dominant begins with D) 3) Friederich's Ataxia / GAA / Chromosome 9 / Autosomal recessive (g AtaxiA / G upside down is 9) 4) Fragile X Syndrome / CGG repeat / X Dominant (fraGile X)
119
Alexia without agraphia is associated with a stroke to where?
Posterior cerebral artery
120
What is the presentation of homocystinuria? What is the most common cause of death?
1) Marfanoid habitus, ectopia lentis, myopia, glaucoma, livedo reticularis, seizures, ID, malar flush, psychiatric issues, osteoporosis 2) High likelihood of intracranial arterial or venous thrombosis --> death can result from MI, stoke, or PE.
121
How do you treat homocystinuria?
Elevated homocysteine levels can be lowered by folic acid (B9), sometimes with need for addition of vitamin B6 and B12.
122
What is the enzyme deficiency in Tay-Sachs?
Hexoaminidase-A deficiency
123
What is the presentation of Tay-Sachs?
Usual development until 6 months of age --> then mental/physical deterioration --> blindness, deafness, impaired swallowing, atrophy, paralysis --> death by age 4
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What is the enzyme deficiency in Metachromatic Leukodystrophy (MLD)?
Arylsulfatase-A
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What is the presentation of Metachromatic Leukodystrophy (MLD)?
1) AFTER 12 months --> difficulty walking with muscle wasting and rigidity 2) Developmental delays, impaired swallowing, blindness, seizures, dementia 3) Death by age 5
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What is the enzymatic deficiency in Niemann-Pick disease? What is the gene mutation?
1) Sphingomylinase (Lysosomal Storage Disease) 2) SMPD1 *I PICK my Nose with my Sphinger*
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What is the presentation of Niemann-Pick disease?
1) Hepatosplenomegaly --> distension, reduced appetite, pain, thrombocytopenia 2) Ataxia, dysarthria, dysphagia --> sphingomyelin accumulation in cerebellum 3) Dystonia (abnormal posturing of limbs) --> deposition in basal ganglia 4) Supranuclear gaze palsy (impaired rapid eye movements)
128
What is the presentation for Fragile X Syndrome?
Elongated facies, macro-orchidism, large ears, behavioral characteristics such as stereotypical movements and social anxiety
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What is the genetic defect in Williams’ syndrome? How does it present?
1) Microdeletion on 7q11 2) Elfin facies, short stature, hypotonia, low-nasal bridge, HYPERACUSIS 3) Unusual ease with strangers with pleasant demeanor, developmental delay, strong language skills, associated with ADHD 4) Hypercalcemia 5) Cardiac valvular defects, supravalvular aortic stenosis, renal artery stenosis
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In addition to the cerebral cortex, pathologic examination of carbon monoxide poisoning shows hypoxic and ischemic damage where?
Globus pallidus, hippocampus, cerebellum
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Stiff-person syndrome (persistent limb rigidity and spasms) is most often a para-neoplastic phenomenon associated with what autoantibodies? How does it present?
1) GAD auto-antibodies (most commonly breast and lung cancers, and Hodgkin’s disease) 2) Fluctuating rigidity of the lower trunk and legs (can extend to arms/shoulders/neck) with superimposed spasms.
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What is the most common primary CNS malignancy in children? How does it present?
1) Medulloblastoma 2) Blockage of the 4th ventricle --> obstructive hydrocephalus (increased ICP) --> MORNING headaches (most common initial symptom), intractable N/V, Abducens (CN VI) nerve palsy leading to HEAD TILT, papilledema 3) Cerebellar lesions --> ataxia or dysmetria

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