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Etcetera > Movement > Flashcards

Movement Flashcards

1
Q

rhythmic movement of palate with audible clicking
localization/MRI finding?

A

palatal myoclonus

can be essential (idiopathic) OR symptomatic
localizes to Guillain-Mollaret triangle (red nucleus-dentate-inferiorolive)

MRI brain shows BIG inferior olive.

CAN OCCUR DURING SLEEP!!

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2
Q

dystonia in young girl worse in afternoons
dx, inheritance, mutation

A

dopa responsive dystonia
low risk of dyskinesias. F>M. can have mild parkinsonism on exam
autosomal dominant
GTP cyclohydrolase I on chromo 14 (DYT5)

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3
Q

limb dystonia that starts in childhood and spreads to involve trunk and other limbs over a few years

A

primary generalized dystonia
AD
mutation of torsin A gene on chromo 9
DYT1 dystonia

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4
Q

orolingual dystonias (tongue protrusion) + self mutilation + cognitive decline with NORMAL cholesterol, vitamin E, uric acid and retina.

A

chorea-acanthocytosis

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5
Q

low cholesterol, low vitamin E, movement disorder

A

abetalipoproteinemia associated neuroacanthocytosis

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6
Q

boy with self mutilation, abnormal movements, kidney stones

A

Lesch Nyan syndrome
X linked
HGPRT mutation –> abnormal purine metabolism –> high uric acid levels

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7
Q

chorea during pregnancy suggests what

A

prior rheumatic fever, underlying autoimmune disease, underlying antiphospholipid antibody syndrome

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8
Q

anti streoptolysin antibodies and anti basal ganglia antibodies

A

positive in sydenham’s but neither sensitive nor specific

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9
Q

old man with ataxia and tremor, grand kid with intellectual disability, MRI shows hyperintense cerebellum and inf cerebellar peduncle

A

Fragile X tremor-ataxia syndrome
X linked
typically the grandparent of a kid with Fragile X
CGG repeat in FMR1 gene
clinically resembles MSA

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10
Q

spinocerebellar ataxias - most forms have what inheritance?

A

autosomal dominant
repeat expansions common (CAG)

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11
Q

person in 30s-40s presenting with progressive truncal and limb ataxia, spasticity, UMN findings. dx?

A

SCA

can also have impaired saccades and smooth pursuits, cranial nerve probs, neuropathy, epilepsy, cognitive decline

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12
Q

most common SCA?

A

SCA3 = Machado Joseph disease
30s to 40s
facial and tongue atrophy and fasciculations
bulbar sx - dysphagia
CAG repeat

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13
Q

kid with neuropathy, ataxia, EOM problems, can’t move eyes without thrusting their head. look at their sclera…what lab test should you order?

A

ataxia telangiectasia
ATM gene mutation, AR
altered DNA repair
risk for cancer

alpha fetoprotein will be HIGH!

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14
Q

high alpha fetoprotein in child with ataxia

A

ataxia telangiectasia (or, can also be elevated in oculomotor apraxia type 2)

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15
Q

high arched feet plus ataxia

A

Friedrich’s ataxia
cerebellar dysfunction + neuropathy + UMN findings
cardiac involvement common (conduction probs and HCM)
GAA frataxin gene chromo 9

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16
Q

idebenone role in Friedrich ataxia

A

its a synthetic COQ10
helps improve the cardiomyopathy

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17
Q

ataxia of unclear etiology - what other labs should you check? what about asking about meds patient has gotten? infectious causes?

A

celiac antibodies (even if no GI symptoms)
TSH (look for hypothyroidism)
mercury level

meds: chemotherapy (5-fluorouracil, cytarabine), chronic phenytoin use

infections: HIV, CJD, Whipple’s, post infectious (VZV in kids)

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17
Q

ataxia of unclear etiology - what other labs should you check? what about asking about meds patient has gotten? infectious causes?

A

celiac antibodies (even if no GI symptoms)
TSH (look for hypothyroidism)
mercury level

meds: chemotherapy (5-fluorouracil, cytarabine), chronic phenytoin use (Purkinje cell loss)

infections: HIV, CJD, Whipple’s, post infectious (VZV in kids)

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18
Q

how does chronic alcoholism affect neuro sx?

A

malnourishment –> thiamine and B12 def

EtOH itself toxic to cerebellum, affects midline (vermis) causing truncal ataxia. but limb ataxia can be seen too

19
Q

how many layers does cerebellar cortex have? name them?

A

3!

molecular - outermost - inhibitory neurons called stellate and basket cells

Purkinje cell layer - main output to deep cerebellar and vestibular nuclei. GABA

granular - innermost - granule cells and Golgi interneurons. only granule cells are excitatory

20
Q

Purkinje cells neurotransmitter

A

GABA - inhibitory

21
Q

familial hyperekplexia - mutations in what receptor? why?

A

glycine receptor and presynaptic glycine transporter

glycine is inhibitory at spinal interneurons

22
Q

secondary forms of exaggerated startle response (3)

A

CJD
brainstem disorders
stiff person syndrome

23
Q

stiff person syndrome - etiology and treatment

A

autoimmune- anti-GAD antibody (assoc with DM and endocrinopathies)

paraneoplastic - anti-amphiphysin antibody

tx: benzos, baclofen

24
Q

episodic ataxia I vs II vs III? (describe symptoms, mutation, tx)

A

EA1 - facial twitching - KCNA1 mut - AEDs
EA2 - brainstem sx (nystagmus/dysarthria), migraines - CACNA1A - Diamox
EA3 - tinnitus and vertigo, myokymia between attacks - auto dom - Diamox

25
Q

paroxysmal kinesogenic vs nonkinesogenic dyskinesia

A

PKD - triggered by movement, startle, HV; last seconds to minutes; responds to sodium ch blocker; PRRT2 gene

PNKD - no clear trigger; last minutes to hours; doesnt respond to sodium ch blocker; MR-1 gene

26
Q

paroxysmal exertional dyskinesias (PED)-gene?lab?tx?

A

triggered by prolonged exercise, last 5-30 minutes, assoc with GLUT-1 gene. low glucose in CSF. may respond to keto

27
Q

mutation in nocturnal frontal lobe epilepsy - affects what receptor

A

nicotinic ACh receptor-(picture-waking-up-in-night-w-bizarre-movement-and-smoking-a-cig)

28
Q

hemifacial spasm causes

A

compression of CN 7 such as tumor or vascular loop
tx: nerve decompression, botox

thought to be demyelinating lesion in facial nerve that leads to abnormal spontaneous discharges. or may be facial nucleus hyperexcitability (abnormal blink reflex)

29
Q

parkinsonism, neuropathy, neurocognitive changes, cataracts, and masses in both Achilles tendons. Dx? Lab?

A

cerebrotendinous xanthomatosis - deposition of cholesterol and cholestanol into various tissues

check cholestANOL which will be elevated.
cholesterol is usually normal

AR defect in 27-sterol hydroxylase
Tx: chenodeoxycholic acid

30
Q

testing for Machado Joseph disease (SCA3)

A

CAG repeat on chromo 14

31
Q

magnetic gait

A

normal pressure hydrocephalus

32
Q

patient feels unsteady,shaky when they stand up still but when they walk they are ok

A

orthostatic tremor

33
Q

patient comes in with several years of parkinsonism, dysarthria, rigidity. CT scan shows whopping hyperdensities in bilateral basal ganglia. Dx?

A

Fahr’s disease (striopallidodentate calcinosis)

calcium deposits in caudate, putamen, thalamus, cerebellum

can be idiopathic or genetic, metabolic (hyperparathyroidism and hypoparathyroidism)

34
Q

genetic testing of minors

A

avoid testing of asymptomatic minors especially when the disorder is not treatable and you can’t intervene to prevent the disease (i.e. Huntington’s dz - wait until 18 years old with informed consent)

35
Q

synucleinopathies

A

Parkinson’s, MSA, Lewy body dementia

36
Q

tauopathies

A

PSP, FTD, corticobasal syndrome

37
Q

when is a dopamine transporter SPECT scan useful

A

if trying to determine idiopathic PD vs essential tremor/vascular PD/drug-induced PD

38
Q

most common NBIA (neurodegen w/ brain iron accumulation)

A

PKAN! pantothenate-kinase-associated neurodegen

hypointensity of globus pallidus with central hyperintensity (Eye of tiger)

39
Q

adolescent develops orolingual dystonia which generalizes, dysarthria, bradykinesia, rigidity. MRI shows hypointensity of basal ganglia. dx?

A

NBIA (neurodegen with brain iron accumulation)

can p/w developmental delay, seizures, ataxia
present in infancy/childhood

genetic and phenotypic heterogeneity - many genes associated with lipid or iron metabolism

most common is PKAN (eye of tiger)

40
Q

neonatal hyperbilirubinemia + bilateral basal ganglia lesions + movement disorder in childhood

A

kernicterus

hyperintense globus pallidus on T2

41
Q

differential of hypointensity on T2 MRI

A

hemosiderin, calcium, iron

CT will show calcification
GRE and SWI will show iron deposition + hemosiderin

iron more likely to be progressive, symmetric bilateral
hemosiderin would be acute, asymmetric (hemorrhage)

42
Q

patient with diabetes p/w hemichorea and hemiballism. glucose is high. MRI shows unilateral hyperintensity of striatum on T1

A

nonketotic hyperglycemia

can be first presentation of diabetes

tx: DA receptor blocker

43
Q

pathogen that causes bilateral striatal necrosis

A

mycoplasma

44
Q

baby panda bear on MRI (pons midbrain cut)

A

Wilson disease

45
Q

DYT6

A

starts in head/neck – then generalizes
THAP1 gene

46
Q

PRRT2 mutation

A

paroxysmal kinesogenic dyskinesia

Etcetera (9 decks)

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