movement disorder buzz phrase

Question 1

direct pathway: inhibitory or excitatory to cortex?

Answer 1

excitatory (increases thalamic excitation of cortex)

Question 2

indirect pathway: inhibitory or excitatory to cortex?

Answer 2

inhibitory (decreases thalamic excitation of cortex)

Question 3

hyperkinetic movement disorders (direct or indirect pathway dysfunction)?

Answer 3

reduced activity of indirect pathway

Question 4

hypokinetic movement disorders (direct or indirect pathway dysfunction)?

Answer 4

reduced activity of direct pathway

Question 5

sites involved in direct pathway (name four)

Answer 5

caudate/putamen, globus pallidus interna (GPI), substantia nigra reticulate (SNr), and thalamus

Question 6

mechanism of action: ropinirole and pramipexole

Answer 6

dopamine agonists at D2 and D2 receptors

Question 7

mechanism of action: entacapone

Answer 7

catechol-o-methyltransferase (COMT) inhibitor

Question 8

parkinson’s disease therapy that causes impulse control problems

Answer 8

dopamine agonists

Question 9

most common gene mutated in hereditary parkinson’s disease

Answer 9

leucine rich repeat kinase 2 (LRRK2)

Question 10

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

Answer 10

neuroacanthocytosis

Question 11

huntington’s disease: chromosome, mode of inheritance, protein, genectic abnormality

Answer 11

chromosome 4, autosomal dominant, huntington, CAG trinucleotide repeat expansion

Question 12

torsin A mutation

Answer 12

primary generalized dystonia, autosomal dominant, chromosome 9, DYT1 dystonia

Question 13

Filipino with dystonia and parkinsonism

Answer 13

DYT3, Lubag, X-linked dystonia-parkinsonism

Question 14

dystonia in a young girl with diurnal variation and parkinsonism on examination

Answer 14

dopa-responsive dystonia, autosomal dominant, GTP cyclohydrolase I (GCH1) on chromosome 14

Question 15

episodes of ataxia with facial twitching: diagnosis, gene, triggers, treatment

Answer 15

episodic ataxia type I. Gene: KCN1A. Triggers: exercise, startle. Treatment: anticonvulsants such as carbamazepine

Question 16

episodes of ataxia with nystagmus and dysarthria: diagnosis, gene, triggers, treatment

Answer 16

episodic ataxia type II. Gene CACN1A4

Triggers: alcohol, fatigue, stress. Treatment: acetazolamide

Question 17

neurotransmitter implicated in familial hyperekplexia (exaggerated startle syndrome)

Answer 17

glycine

Question 18

antibodies in stiff person syndrome

Answer 18

autoimmune: antiflutamic acid decarboxylase (GAD), paraneoplastic: antiamphiphysin

Question 19

high arched feet, scoliosis, neuropathy, ataxia, cardiomyopathy. diagnosis: gene

Answer 19

Friedreich’s ataxia, trinucleotide repeat GAA expansion in frataxin gene on chromosome 9, autosomal recessive

Question 20

telangiectasia, ataxia, oculomotor abnormalities, immunodeficiency, hematologic malignancy

Answer 20

ataxia-telangiectasia, autosomal recessive, ATM gene on chromosome 11, results in impaired DNA repai

Question 21

ataxia with high serum alpha fetoprotein

Answer 21

ataxia telangiectasia and ataxia with oculomotor apraxia type 2

Question 22

cause and mode of inheritance of spinocerebellar ataxia type 3 (Machado Joseph disease), clinical presentation

Answer 22

CAG repeat expansion, autosomal dominant, ataxia, spasticity, neuropathy

Question 23

ataxia, parkinsonism in the grandfather of a boy with fragile X syndrome. Disorder, gene, imaging findings

Answer 23

Fragile X tremor ataxia syndrome (FXTAS), from premutation (55-200 repeats) in CGG in FMR1 gene on chromosome X. T2 hyperintensities in cerebellum and inferior cerebellar peduncle.

Question 24

ataxia, cataracts, tendon xanthomas. disorder, diagnosis

Answer 24

cerebrotendinous xanthomatosis, serum cholesterol

Question 25

“eye of the tiger”

Answer 25

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

Question 26

medication that improves outcome of cardiomyopathy in friedrich’s ataxia

Answer 26

idebenone, a coenzyme Q10 analogue

Question 27

halo sign

Answer 27

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

Question 28

multiple sclerosis relapse

Answer 28

episode of neurologic worsening or new symptoms in multiple sclerosis not due to fever or infection, and lasting >24 hours

Question 29

dawson’s fingers

Answer 29

finger-like extensions of demyelination and inflammation extending rostrally from the corpus callosum in multiple sclerosis

Question 30

Lhermitte’s sign

Answer 30

electric sensations down the neck, back, or limbs with neck flexion. Often related to demyelination in cervical spine.

Question 31

Uhthoff’s phenomenon

Answer 31

transient symptoms elicited with head or exercise

Question 32

internuclear ophthalmoplegia

Answer 32

due to disorder in MLF common in MS. with a right INO on left gaze, cannot adduct right eye, with left eye abduction nystagmus. May be bilateral.

Question 33

Balo’s concentric sclerosis

Answer 33

form of demyelination with concentric sclerosis, may appears as onion skin lesion on MRI

Question 34

Devic’s disease

Answer 34

also known as NMO, neuromyelitis optic immunoglobulin G to aquaporin 4

Question 35

Useless hand of oppenheim

Answer 35

because of sensory deafferentation where the hand feels useless with otherwise-normal motor function

Question 36

Pulfrich’s phenomenon

Answer 36

visual phenomenon where patients have trouble following moving objects visually, and lateral motion in the field of vision is perceived as having a depth component.