Movement Flashcards by Lauren Albor

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

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

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

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

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

chorea-acanthocytosis

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low cholesterol, low vitamin E, movement disorder

abetalipoproteinemia associated neuroacanthocytosis

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boy with self mutilation, abnormal movements, kidney stones

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

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chorea during pregnancy suggests what

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

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anti streoptolysin antibodies and anti basal ganglia antibodies

positive in sydenham’s but neither sensitive nor specific

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

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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spinocerebellar ataxias - most forms have what inheritance?

autosomal dominant
repeat expansions common (CAG)

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

SCA

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

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most common SCA?

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

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

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

alpha fetoprotein will be HIGH!

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high alpha fetoprotein in child with ataxia

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

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high arched feet plus ataxia

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

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idebenone role in Friedrich ataxia

its a synthetic COQ10
helps improve the cardiomyopathy

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

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

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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how does chronic alcoholism affect neuro sx?

malnourishment –> thiamine and B12 def

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

how many layers does cerebellar cortex have? name them?

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

Purkinje cells neurotransmitter

GABA - inhibitory

familial hyperekplexia - mutations in what receptor? why?

glycine receptor and presynaptic glycine transporter

glycine is inhibitory at spinal interneurons

secondary forms of exaggerated startle response (3)

CJD
brainstem disorders
stiff person syndrome

stiff person syndrome - etiology and treatment

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

paraneoplastic - anti-amphiphysin antibody

tx: benzos, baclofen

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

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

paroxysmal kinesogenic vs nonkinesogenic dyskinesia

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

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

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

mutation in nocturnal frontal lobe epilepsy - affects what receptor

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

hemifacial spasm causes

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)

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

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

testing for Machado Joseph disease (SCA3)

CAG repeat on chromo 14

magnetic gait

normal pressure hydrocephalus

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

orthostatic tremor

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

Fahr's disease (striopallidodentate calcinosis) calcium deposits in caudate, putamen, thalamus, cerebellum can be idiopathic or genetic, metabolic (hyperparathyroidism and hypoparathyroidism)

genetic testing of minors

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)

synucleinopathies

Parkinson's, MSA, Lewy body dementia

tauopathies

PSP, FTD, corticobasal syndrome

when is a dopamine transporter SPECT scan useful

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

most common NBIA (neurodegen w/ brain iron accumulation)

PKAN! pantothenate-kinase-associated neurodegen hypointensity of globus pallidus with central hyperintensity (Eye of tiger)

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

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)

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

kernicterus hyperintense globus pallidus on T2

differential of hypointensity on T2 MRI

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)

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

nonketotic hyperglycemia can be first presentation of diabetes tx: DA receptor blocker

pathogen that causes bilateral striatal necrosis

mycoplasma

baby panda bear on MRI (pons midbrain cut)

Wilson disease

DYT6

starts in head/neck -- then generalizes THAP1 gene

PRRT2 mutation

paroxysmal kinesogenic dyskinesia