Movement Flashcards
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!!
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)
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
orolingual dystonias (tongue protrusion) + self mutilation + cognitive decline with NORMAL cholesterol, vitamin E, uric acid and retina.
chorea-acanthocytosis
low cholesterol, low vitamin E, movement disorder
abetalipoproteinemia associated neuroacanthocytosis
boy with self mutilation, abnormal movements, kidney stones
Lesch Nyan syndrome
X linked
HGPRT mutation –> abnormal purine metabolism –> high uric acid levels
chorea during pregnancy suggests what
prior rheumatic fever, underlying autoimmune disease, underlying antiphospholipid antibody syndrome
anti streoptolysin antibodies and anti basal ganglia antibodies
positive in sydenham’s but neither sensitive nor specific
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
spinocerebellar ataxias - most forms have what inheritance?
autosomal dominant
repeat expansions common (CAG)
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
most common SCA?
SCA3 = Machado Joseph disease
30s to 40s
facial and tongue atrophy and fasciculations
bulbar sx - dysphagia
CAG repeat
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!
high alpha fetoprotein in child with ataxia
ataxia telangiectasia (or, can also be elevated in oculomotor apraxia type 2)
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
idebenone role in Friedrich ataxia
its a synthetic COQ10
helps improve the cardiomyopathy
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)
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)
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?
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
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
