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Cheng-Ching Questions > Movement disorders > Flashcards

Movement disorders Flashcards

1
Q

Is a resting tremor necessary to make the diagnosis of Parkinson’s disease?

A

no

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2
Q

When does dementia begin in someone with PD?

A

later, usually over a year

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3
Q

Is PD alpha or tau?

A

alpha

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4
Q

Pathologic hallmark of PD?

A

lewy bodies (neuronal intracytoplasmic inclusions surrounded by a clear halo)

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5
Q

Pathologic hallmark of MSA?

A

oligodendroglial inclusions

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6
Q

Genes associated with PD?

A

-PARK1 (alpha synuclein), AD young onset
-PARK2 (Parkin), AR juvenile onset
-LRRK2 and PARK8, familial PD, AD

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7
Q

How do COMT inhibitors work in PD

A

inhibit conversion of dopamine to 3-O-methyldopa thus prolonging action, reducing “off” periods

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8
Q

MOA of carbidopa

A

peripheral dopa-decarboxylase inhibitor; reduces conversion of levodopa into dopamine into peripherhy

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9
Q

MOA of pramipexole and ropinirole

A

dopamine agonist

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10
Q

MOA of rasagiline and selegiline

A

MAOB inhibitors

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11
Q

MOA of trihexyphenidyl

A

anticholingeric
*limited for the treatment of tremor

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12
Q

MOA of amantidine

A

antiglutamatergic
-increases presynaptic dopamine and inhibits reuptake of dopamine

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13
Q

DBS is effective for which PD symptoms?

A

tremor and bradykinesia

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14
Q

Is PSP responsive to levodopa

A

not really

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15
Q

Does PSP have retrocollis or anecollis

A

retrocollis

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16
Q

Is MSA levodopa responsive

A

no

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17
Q

Vascular parkinsonism affects what?

A

mostly lower extremities > upper extremities
*tremor is not a prominent feature

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18
Q

manganese toxicity presents how?

A

psychiatric sx, parkinsonism (usually without tremor), gait disorder (toe walking)
*think miners or welders

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19
Q

what is a rubral tremor

A

low frequency, present at rest, posture and action

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20
Q

Other than BB and primidone what can be used for essential tremor?

A

topiramate, gabepentin, benzos

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21
Q

what is secondary tourettism?

A

when the symptoms are due to an underlying neurologic cause

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22
Q

Wilson’s disease pathophysiology?

A

inability to excrete copper

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23
Q

Mutation associated with Wilson’s?

A

chromosome 13, ATP7B

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24
Q

Wing beating is characteristic for what?

A

Wilson’s

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25
Q

Lab studies for wilson’s show what?

A

reduced serum ceruloplasmin and increased urinary excretion of copper

26
Q

treatment for wilsons?

A

low copper diet, zinc supplement, D-penicillamine

27
Q

Huntington’s gene?

A

trinucleotide repeat CAG, chromosome 4

28
Q

How do you best treat Sydenham’s chorea?

A

antidopaminergic therapies

29
Q

Chorea in pregnancy, what should you be thinking about?

A

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

30
Q

chorea-acanthocytosis ?

A

mixed movement disorder, dystonia and chorea
*most prominent feature is orolingual dystonia (tongue protrustion), self mutilating, cognitive decline, dysarthria, PD, seizures, opthalmoplegia

31
Q

Mutation in chorea acanthocytosis?

A

VPS13A gene on chromosome 19

32
Q

what do you see on a blood smear in chorea acanthycytosis?

A

acanthocytes (spiculated red blood cells)

33
Q

Dentatorubral pallidolysian atrophy is what?

A

*Asians
-myoclonus, choroathetosis, epilepsy, dystonia, tremor, PD, cognitive

34
Q

Gene invovled in dentatorubral pallidolysian atrophy?

A

AD, trinucleotide repeat CAG on chromosome 12

35
Q

Lesch Nylan is what?

A

abnormal purine metabolism –> hyperuricemia, kidney stones, neurpsych sx, abnormal movements
*also have self mutilation

36
Q

Mutation in Lesch Nyhan?

A

X linked recessive, mutation in HGPRT

37
Q

Where is the lesion in unilateral hemiballism?

A

-contralateral subthalamic nucleus (STN)
-can also happen in contralateral parietal or thalamic lesions

38
Q

What can cause bilateral ballism?

A

bilateral BG infarcts

39
Q

Treatments for tardive dyskinesia?

A

clonazapam and tetrabenazine

40
Q

What is dystonia?

A

sustained contraction of agonist and antagonist muscles

41
Q

What is segmental dystonia?

A

if the dystonia spreads to a contiguous body part

42
Q

What is generalized dystonia?

A

at least 2 segmental regions with at least one other body part

43
Q

Gene in primary generalized dystonia?

A

AD, mutation in torsin A chromosome 9
*ashkenazi jews

44
Q

How does primary generalized dystonia present?

A

usually in childhood with action induced limb dystonia then usually spreads
*poor response to levodopa

45
Q

How do you treat primary generalized dystonia?

A

anticholinergics, benzos, DBS

46
Q

Does blepharospasm involve cheek and mouth?

A

no, but hemifacial spasm does

47
Q

what is paroxysmal kinesigenic dyskinesias?

A

-hyperkinetic abnormal movements with intervening normalcy
-precipitated by sudden movement, startle, hyperventilation

48
Q

What is the difference between paroxysmal kinesigenic dyskinesias and paroxysmal nonkinesigenic dyskinesias?

A

PNKD are longer and there is sometimes to clear trigger

49
Q

symptoms of episodic ataxia type I?

A

-ataxia with facial twitching, can have myokemia or neuromytotonia
-triggered by startle, movement or exercise
*mutation in KCNA1
*anti-convulsants work well

50
Q

symptoms of episodic ataxia type II?

A

ataxia with brainstem symptoms, nystagmus, dysarthria.
-No facial twitching
-triggered by alcohol/caffeine
*mutation in CACN1A4
*tx with acetazolamide

51
Q

symptoms of episodic ataxia type III?

A

-tinnitus and vertigo
-in between attacks myokemia occurs
*tx with acetazolamide

52
Q

symptoms of episodic ataxia type IV?

A

ataxia with ocular motion abnormalities

53
Q

Stiff person syndrome antibodiess?

A

Anti-GAD

54
Q

Symptoms of stiff person syndrome?

A

increased tone, lumbar lordosis, spasms, startle response

55
Q

Friedrich Ataxia gene mutation?

A

trinucleotide repeat GAA, chromosome 9
*autosomal recessive

56
Q

Ataxia-telangiectasia symptoms?

A

neuropathy, ataxia, extraocular movement abnormalities (cant move eyes without head thrusting)

57
Q

How do you treat cerebrotendinous xanthomatosis?

A

chenodeoxycholic acid

58
Q

Which neurodegeneration with brain iron accumulation syndrome has ‘eye of the tiger” findings on MRI?

A

PKAN

59
Q

Neurotransmitter in familial hyperekplexia?

A

Glycine

60
Q

Medication that improves cardiomyopathy in Friedreich ataxia?

A

idebenone, coenzyme 10 analogue

61
Q

Halo sign in cerebral peduncles is seen in what disorder?

A

BPAN

Cheng-Ching Questions (7 decks)

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