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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
Lab studies for wilson's show what?
reduced serum ceruloplasmin and increased urinary excretion of copper
26
treatment for wilsons?
low copper diet, zinc supplement, D-penicillamine
27
Huntington's gene?
trinucleotide repeat CAG, chromosome 4
28
How do you best treat Sydenham's chorea?
antidopaminergic therapies
29
Chorea in pregnancy, what should you be thinking about?
-prior rheumatic fever -underlying autoimmune disease, SLE -antiphospholipid antibody syndrome
30
chorea-acanthocytosis ?
mixed movement disorder, dystonia and chorea *most prominent feature is orolingual dystonia (tongue protrustion), self mutilating, cognitive decline, dysarthria, PD, seizures, opthalmoplegia
31
Mutation in chorea acanthocytosis?
VPS13A gene on chromosome 19
32
what do you see on a blood smear in chorea acanthycytosis?
acanthocytes (spiculated red blood cells)
33
Dentatorubral pallidolysian atrophy is what?
*Asians -myoclonus, choroathetosis, epilepsy, dystonia, tremor, PD, cognitive
34
Gene invovled in dentatorubral pallidolysian atrophy?
AD, trinucleotide repeat CAG on chromosome 12
35
Lesch Nylan is what?
abnormal purine metabolism --> hyperuricemia, kidney stones, neurpsych sx, abnormal movements *also have self mutilation
36
Mutation in Lesch Nyhan?
X linked recessive, mutation in HGPRT
37
Where is the lesion in unilateral hemiballism?
-contralateral subthalamic nucleus (STN) -can also happen in contralateral parietal or thalamic lesions
38
What can cause bilateral ballism?
bilateral BG infarcts
39
Treatments for tardive dyskinesia?
clonazapam and tetrabenazine
40
What is dystonia?
sustained contraction of agonist and antagonist muscles
41
What is segmental dystonia?
if the dystonia spreads to a contiguous body part
42
What is generalized dystonia?
at least 2 segmental regions with at least one other body part
43
Gene in primary generalized dystonia?
AD, mutation in torsin A chromosome 9 *ashkenazi jews
44
How does primary generalized dystonia present?
usually in childhood with action induced limb dystonia then usually spreads *poor response to levodopa
45
How do you treat primary generalized dystonia?
anticholinergics, benzos, DBS
46
Does blepharospasm involve cheek and mouth?
no, but hemifacial spasm does
47
what is paroxysmal kinesigenic dyskinesias?
-hyperkinetic abnormal movements with intervening normalcy -precipitated by sudden movement, startle, hyperventilation
48
What is the difference between paroxysmal kinesigenic dyskinesias and paroxysmal nonkinesigenic dyskinesias?
PNKD are longer and there is sometimes to clear trigger
49
symptoms of episodic ataxia type I?
-ataxia with facial twitching, can have myokemia or neuromytotonia -triggered by startle, movement or exercise *mutation in KCNA1 *anti-convulsants work well
50
symptoms of episodic ataxia type II?
ataxia with brainstem symptoms, nystagmus, dysarthria. -No facial twitching -triggered by alcohol/caffeine *mutation in CACN1A4 *tx with acetazolamide
51
symptoms of episodic ataxia type III?
-tinnitus and vertigo -in between attacks myokemia occurs *tx with acetazolamide
52
symptoms of episodic ataxia type IV?
ataxia with ocular motion abnormalities *triggered with quick head turning
53
Stiff person syndrome antibodies?
Anti-GAD
54
Symptoms of stiff person syndrome?
increased tone, lumbar lordosis, spasms, startle response
55
Friedrich Ataxia gene mutation?
trinucleotide repeat GAA, chromosome 9 *autosomal recessive
56
Ataxia-telangiectasia symptoms?
-neuropathy, ataxia, extraocular movement abnormalities (cant move eyes without head thrusting) -recurrent sinopulmonary infections
57
How do you treat cerebrotendinous xanthomatosis?
chenodeoxycholic acid
58
Which neurodegeneration with brain iron accumulation syndrome has 'eye of the tiger" findings on MRI?
PKAN
59
Neurotransmitter in familial hyperekplexia?
Glycine
60
Medication that improves cardiomyopathy in Friedreich ataxia?
idebenone, coenzyme 10 analogue
61
Halo sign in cerebral peduncles is seen in what disorder?
BPAN
62
What is a difference between stereotypies and complex tic?
sterotypies dont have a urge and relief with the movement
63
Paroxysmal exertional dyskinesia
-dyskinesas after prolonged exercise -last about 5-30 mins but can be up to 2 hours -GLUT-1 gene mutation
64
Paroxysmal exertional dyskinesia CSF?
hypoglycorrhachia
65
Treatment for PED (paroxysmal exertional dyskinesia)
keto diet
66
Mutation associated with PNKD?
MR-1
67
Treatment for PKD?
anti-convulsants CBZ
68
Paraneoplastic antibodies for stiff person syndrome?
anti- amphiphysin
69
GAD does what?
synthesizes GABA (inhibitory)
70
What part of the cerebellum does alcohol mostly affect?
midline structures (vermis)
71
What GI disease can cause isolated cerebellar ataxia?
celiacs *even without GI symptoms
72
Mercury toxicity symptoms?
cerebellar toxicity, visual field deficits, parasthesias
73
Chemo agents that lead to cerebellar toxicity?
5-flurouracil cytarabine
74
Which disorder ha high alpha fetoprotein?
ataxia telangectesia
75
Mutation in ATM?
ATM chromosome 11 -impaired DNA repair
76
Which SCA has tongue and facial atrophy/fascicuations?
SCA-3 Machado Joseph
77
Inheritance of Fragile X Tremor Ataxia Syndrome?
X linked CGG repeat FMR1
78
Sx of FXTAS?
tremor, ataxia, parkinsonian signs, dysautonomia, cognitive decline *family history of mental retardation
79
MRI of FXTAS?
hyperintensties in cerebellum and inferior cerebellar peduncles
80
Inheritance of cerebrotendinous xanthomatosis?
AR def in enzyme 27 sterol hydroxylase on chromosome 22 -deposition of cholesterol and cholestanol in variety of tissues
81
Sx of cerebrotendinuous xanthomatosis?
neuropsych, ataxia, parkinsonism, neuropathy, tendon xanthomas (esp achilles tendon), diarrhea, cataracts
82
Lab abnormality in cerebrotendinous xanthomatosis?
elevated cholestanol
83
Treatment of cerebrotendinous xanthomatosis?
chendodeoxycholic acid
84
Orthostatic tremor
-affects trunk and thighs -unsteadiness or shakiness on standing, improvement when start walking
85
EMG of orthostatic tremor?
high frequency- 14-16 Hz
86
Imaging finding for Fahr's disease?
bilateral calcifcation of BG and cerebellum (striopallidodentate calcinosis)
87
How do NBIA disorders present?
various movement disorders: parkinsonism, dystonia, choreoathetosis, might have developmental delay
88
Mutation in dopa responsive dystonia?
CTP cyclohydrolase I AD
89

Cheng-Ching Questions (7 decks)

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