Movement Disorders

Question 1

direct pathway: inhibitory/excitatory to cortex?

Answer 1

excitatory = increases thalamic excitation of the cortex

Question 2

indirect pathway: inhibitory/excitatory to cortex?

Answer 2

inhibitory = decreases thalamic excitation of cortex

Question 3

hyperkinetic movement disorders (direct or indirect pthway dysfxn)?

Answer 3

reduced activity of indirect pathway

Question 4

hypokinetic movement disorders (direct or indirect pthway dysfxn)?

Answer 4

reduced activity of direct pathwy

Question 5

sites involved in indirect pathway

Answer 5

caudate/putamen
GP externa
GP interna
subthalamic nucleus = STN
thalamus

Question 6

sites invoved in direct pathway

Answer 6

caudate/putamen
GP interna
thalamus
substantia nigra reticulate = SNr

Question 7

MOA ropinirole & pramipexole

Answer 7

dopamine agonist at D2 and D3 receptors

Question 8

MOA entacapone

Answer 8

COMT inhibtior

Question 9

MOA levodopa

Answer 9

dopamine precursor, converted into dopamine by action of dopa carboxylase

Question 10

MOA carbidopa

Answer 10

peripheral dopa-decarboxylase inhibitor

Question 11

parkinson’s disease therapy that causes impulse control problems

Answer 11

dopamin agonists (ropinirole & pramipexole)

Question 12

most common gene mutated in hereditary parkinson’s disease

Answer 12

leucine rich pepeat kinase 2 (LRRK2)

Question 13

tongue protrusion dystonia, chorea, acanthocytes on wet mount peripheral smear

Answer 13

neuroacanthocytosis

Question 14

Huntington’s disease: chromosome, MOI, protein, genetic abnormality

Answer 14

chromosome 4
AD
Huntington protein
CAG trinucleotide repeat expansion

Question 15

torsin A mutation

Answer 15

primary generlized dystonia
AD
chromosome 9
DYT1 dystonia

Question 16

filipino with dystonia and parkinsonism

Answer 16

DYT3, lubag, X-linked dystonia-parkinsonism

Question 17

dystonia in young girl with dirunal variation and parkinsonism on examination

Answer 17

dopa responsive dystonia, auto dominant, GTP cyclohydrolase I (GCH1) on ch 14

Question 18

episodes of ataxia with facial twitching: dx, gene, triggers, tx

Answer 18

episodic ataxia type I.
gene is KCN1A (voltage gated potassium channel)
triggers = exercise, startle
tx = anticonvulsants such as carbamazepine

Question 19

episodes of ataxia with nystagmus and dysarthria: dx, gene, triggers, tx

Answer 19

episodic ataxia type II
gene is CACN1A4
triggers = alcohol, fatigue, stress
tx = acetazolamide

Question 20

neurotransmitter implication in familial hyperekplexia (exaggerated startle syndrome)

Answer 20

glycine

Question 21

antibodies in stiff person syndrome

Answer 21

autoimmune = antiglutamic acid decarboxylase (GAD)
parneoplastic = antiamphiphysin

Question 22

high arched feet, scoliosis, neuropahty, ataixa, cardiomyopathy. dx and gene

Answer 22

Dx = friedreich’s ataxia
trinucleotide repeat GAA expansion in frataxin gene
chromosome 9
AR

Question 23

telangiectasia, ataxia, oculomotor abnormality, immunodeficiency, hematologic malignancy

Answer 23

ataxia-telangiectasia
AR
ATM gene on CH 11
results in impaired DNA repair

Question 24

ataxia with serumalpha-fetoprotein

Answer 24

ataxia-telangiectasia and ataxia with oculomotor apraxia type 2

Question 25

cause and MOI of spinocerebellar ataxia type 3 (Machado-Joseph disease), clinical presentation

Answer 25

CAG repet expansion AD ataxia, spasticity, neuropathy

Question 26

ataxia, parkinsonism in the grandpa of a boy w/ fragile X syndrome. Disorder, gene, imaging finding

Answer 26

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

Question 27

ataxia, cataracts, tendom xanthomas. diosrder, dx

Answer 27

cerebrotendinous xanthomatosis, serum cholestanol

Question 28

eye of the tiger

Answer 28

hyperintensity surrounded by hypointensity in the basal ganglia - seen in panthothenate-kinase associated neurodegeneration (PKAN)

Question 29

medication that improves outcome of cardiomyopathy in friederich's ataxia

Answer 29

idebenone = coenzyme Q10 analogue

Question 30

halo sign

Answer 30

hyperintens lesion on T1 in the cerebral peduncles, seen in beta-propeller protein-associated neurodegeneration (BPAN)