Movement Disorders Flashcards
direct pathway: inhibitory/excitatory to cortex?
excitatory = increases thalamic excitation of the cortex
indirect pathway: inhibitory/excitatory to cortex?
inhibitory = decreases thalamic excitation of cortex
hyperkinetic movement disorders (direct or indirect pthway dysfxn)?
reduced activity of indirect pathway
hypokinetic movement disorders (direct or indirect pthway dysfxn)?
reduced activity of direct pathwy
sites involved in indirect pathway
caudate/putamen
GP externa
GP interna
subthalamic nucleus = STN
thalamus
sites invoved in direct pathway
caudate/putamen
GP interna
thalamus
substantia nigra reticulate = SNr
MOA ropinirole & pramipexole
dopamine agonist at D2 and D3 receptors
MOA entacapone
COMT inhibtior
MOA levodopa
dopamine precursor, converted into dopamine by action of dopa carboxylase
MOA carbidopa
peripheral dopa-decarboxylase inhibitor
parkinson’s disease therapy that causes impulse control problems
dopamin agonists (ropinirole & pramipexole)
most common gene mutated in hereditary parkinson’s disease
leucine rich pepeat kinase 2 (LRRK2)
tongue protrusion dystonia, chorea, acanthocytes on wet mount peripheral smear
neuroacanthocytosis
Huntington’s disease: chromosome, MOI, protein, genetic abnormality
chromosome 4
AD
Huntington protein
CAG trinucleotide repeat expansion
torsin A mutation
primary generlized dystonia
AD
chromosome 9
DYT1 dystonia
filipino with dystonia and parkinsonism
DYT3, lubag, X-linked dystonia-parkinsonism
dystonia in young girl with dirunal variation and parkinsonism on examination
dopa responsive dystonia, auto dominant, GTP cyclohydrolase I (GCH1) on ch 14
episodes of ataxia with facial twitching: dx, gene, triggers, tx
episodic ataxia type I.
gene is KCN1A (voltage gated potassium channel)
triggers = exercise, startle
tx = anticonvulsants such as carbamazepine
episodes of ataxia with nystagmus and dysarthria: dx, gene, triggers, tx
episodic ataxia type II
gene is CACN1A4
triggers = alcohol, fatigue, stress
tx = acetazolamide
neurotransmitter implication in familial hyperekplexia (exaggerated startle syndrome)
glycine
antibodies in stiff person syndrome
autoimmune = antiglutamic acid decarboxylase (GAD)
parneoplastic = antiamphiphysin
high arched feet, scoliosis, neuropahty, ataixa, cardiomyopathy. dx and gene
Dx = friedreich’s ataxia
trinucleotide repeat GAA expansion in frataxin gene
chromosome 9
AR
telangiectasia, ataxia, oculomotor abnormality, immunodeficiency, hematologic malignancy
ataxia-telangiectasia
AR
ATM gene on CH 11
results in impaired DNA repair
ataxia with serumalpha-fetoprotein
ataxia-telangiectasia and ataxia with oculomotor apraxia type 2
cause and MOI of spinocerebellar ataxia type 3 (Machado-Joseph disease), clinical presentation
CAG repet expansion
AD
ataxia, spasticity, neuropathy
ataxia, parkinsonism in the grandpa of a boy w/ fragile X syndrome. Disorder, gene, imaging finding
FXTAS = fragile X tremor-ataxia syndrome from premuation in the CGG in FMR 1 gene on CH x.
T2 hyperintensities in cerebellum and inferior cerebellar peduncle
ataxia, cataracts, tendom xanthomas. diosrder, dx
cerebrotendinous xanthomatosis, serum cholestanol
eye of the tiger
hyperintensity surrounded by hypointensity in the basal ganglia - seen in panthothenate-kinase associated neurodegeneration (PKAN)
medication that improves outcome of cardiomyopathy in friederich’s ataxia
idebenone = coenzyme Q10 analogue
halo sign
hyperintens lesion on T1 in the cerebral peduncles, seen in beta-propeller protein-associated neurodegeneration (BPAN)
