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movement disorders Flashcards

1
Q

What is the inheritence pattern of Park1 mutation? What distinguishes parkinson’s due to PARK1 mutation from sporadic parkinson’s?

A

AD, young onset, prominent psychiatric features

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2
Q

What is the inheritence of PARK2 (aka Parkin) mutation? What are the clinical features?

A

AR, young onset, prominent dystonia.

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3
Q

what is the most common genetic cause of familial parkinson’s and what is the inheritance?

A

LRRK2 mutation, AD.

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4
Q

what are the features of PARK4 related parkinsonism?

A

psychiatric features and blephorspasm.

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5
Q

which structures comprise the striatum?

A

Caudate and putamen

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6
Q

what structures comprise the lentiform nucleus?

A

putamen and globus pallidus

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7
Q

which structure receives most of the inputs to the basal ganglia?

A

Striatum

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8
Q

which structures give rise to outputs from the basal ganglia?

A

Gpi and SNr

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9
Q

what thalamic nuclei do Gpi and SNr project to? is the input inhibitory or excitatory?

A

VL/VA. inhibitory

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10
Q

Where does VL/VA thalamus project? Is the input inhibitor or excitatory?

A

motor and premotor cortex. Excitatory.

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11
Q

draw the direct pathway

A

net effect is to promote movement

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12
Q

draw the indirect pathway

A

net effet is to inhibit movement

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13
Q

what is the role of the SNc?

A

Inhibits indirect pathway and disinhibits direct pathway, therefore promotes movement. Degenerates in PD.

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14
Q

Which Dopamine receptors are found in the Direct Pathway? Are these receptors inhibitory or excitatory?

A

D1, excitatory

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15
Q

Which dopamine receptors are found in the indirect pathway? Are they excitatory or inhibitory?

A

D2, Inhibitory

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16
Q

Which neurotransmitter is the main excitatory neurotransmitter of the basal ganglia?

A

Glutamate

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17
Q

which neurotransmitter is the main inhibitory neurotransmitter of the basal ganglia?

A

GABA

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18
Q

what receptors do antipsychotics act at and what is their action there?

A

D2 antagonists.

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19
Q

which anti-depressant class should be avoided in patients taking levodopa?

A

nonselective MAOIs

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20
Q

what is the mechanism of action of Entacapone?

A

COMT inhibitor. Increases the half life of dopamine, decreases “off” periods.

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21
Q

what is the mechanism of action of Rpinirole and pramipexole?

A

D2 and D3 agonists (ie inhibit the indirect pathway)

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22
Q

what is the mechanism of action of Rasagiline and selegiline?

A

MAOB inhibitors, ie inhibit dopamine metabolism

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23
Q

what is the mechanism of action of Trihexyphenidyl?

A

anti-cholinergic. Useful for treating tremor.

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24
Q

what is the main side effect of slegiline?

A

insomnia

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25
Q

what are main side effects of pramipexole and ropinerole?

A

somnolence and impulse control problems.

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26
Q

what parkinsons plus syndrome presents later, has restricted downward gaze and retrocollis?

A

PSP

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27
Q

what parkinson’s plus syndrome is repersented?

A

PSP=hummingbird sign

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28
Q

what kind of “opathy” is PSP?

A

tau

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29
Q

what parkinson’s plus syndrome presents with autonomic dysfunction or ataxia and has neck antecolis?

A

MSA

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30
Q

what parkinson plus syndrome is depicted?

A

MSA= hot cross bun

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31
Q

what type of “opathy” is MSA?

A

syneuclopathy

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32
Q

what parkinson plus syndrome consists of focal limb rigidity/dystonia, cortical myoclonus, astereognosis and sometimes alien limb syndrome?

A

CBGD

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33
Q

what form of parkinsonism affects lower extremities more than upper extremities?

A

vascular parkinsonism

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34
Q

what form of parkinsonism affects welders and people on TPN?

A

Manganese toxicity.

35
Q

what is the frequency of essential tremor?

A

4-8 Hz

36
Q

how can essential tremor and enhanced physiologic tremor be distinguished?

A

In enhanced physiologic tremor the tremor improves with mass-loading.

37
Q

what type of tremor is slow, present at rest, posture and action, and is common in MS? Where is the lesion?

A

rubral tremor. Dentate of cerebellum or superior cerebellar peduncle.

38
Q

what disorder is dipicted? On what chromosome is the mutation?

A

WIlson’s disease. Chr 13. Also get caudate hyperintensity

39
Q

What is the trinucleotide repeat in Huntington’s disease? What chromosome?

A

CAG, Chr 4

40
Q

what gene is affected in benign hereditary chorea?

A

gene for TTF

41
Q

what disorder presents with tongue protrusion dystonia, chorea, and self mutilation behavior? what is the mode of inheritance?

A

acanthocytosis. AD or X-linked recessive.

42
Q

what disorder presents in the 4th decade and consists of myoclonus, choreathetosis, epilepsy and cognitive dysfunction and is due to trinucleotide repeat?

A

DRPLA.

43
Q

what is the trinucleotide repeat in DRPLA and on what chromosome?

A

CAG on Chr 12

44
Q

How can Lesch-Nyhan syndrome and acanthocytosis be distinguished?

A

In lesch nyhan there is uricemia with nephrolithiasis and not typically tongue protrusion dystonia as in acanthocytosis.

45
Q

injury to what nucleus causes hemibalismus?

A

Contralateral STN

46
Q

what are 6 treatments for tardive dyskinesia

A
  1. slow taper of anti-psychotic
  2. switching to anti-psychotic with less D2 antagonism.
  3. dopamine depleting agents (tetrabenizine, reserpine)
  4. Levodopa
  5. Depakote
  6. Clonazepam
47
Q

what primary generalized dystonia starts in childhood and is more common in Asckenazi Jews? What Chromosome?

A

DYT1 Chr 9

48
Q

What primary generalized dystonia starts in the teenage years and has tremor, myocolonus, and dystonia?

A

DYT 11

49
Q

What Primary Generalized Dystonia is X-linked and more common in phillipinos?

A

DYT3 (Lubag)

50
Q

what are medications used for dystonias?

A

anti-cholinergics, benzodiazepines, baclofen

51
Q

what primary generalized dystonia is more common in females, has a diurnal pattern and responds to low dose dopamine? What enzyme and chromosome?

A

dopa responsive dystonia (DYT5), GTP cyclohydrolase 1 on Chr 14.

52
Q

what structures make up the guillain-mollaret triange?

A

Dentate of cerebellum, infirior olive, red nucleus

53
Q

what MRI finding can be seen in symptomatic palatal myoclonus?

A

inferior olive hypertrophy

54
Q

in what disorder are paroxysms of dyskinesia triggered by sudden movement or startle and hyperventillation. How long do attacks last?

A

Paroxysmal kinesiogenic dyskinesia. attacks last up to 5 min.

55
Q

in what disorder are dyskinesias aggravated by alcohol, caffeine and fatigue? How long do attacks last?

A

PKND. Attacks last minutes to hours.

56
Q

which disorder consists of episodic ataxia in association with facial twitching? what gene and chromosome?

A

EA1, KCNA1 on Chr 12

57
Q

what disorder consists of episodic ataxia associated with nystagmus and dysarthria? What gene ?

A

EAII, CACN1A4.

58
Q

What disorder consists of episodic ataxia with tinnitus and vertigo? What is the inheritance?

A

EA III, AD

59
Q

What disorder consists of episodic ataxia with ocular abnormalities triggered by sudden head movement?

A

EA IV

60
Q

exaggerated startle, increased axial tone, lordosis with onset in the 40s or 50s

A

stiff person syndrome

61
Q

what antibodies are present in auto-immune stiff person syndrome?

A

anti-GAD

62
Q

what antibodies are present in paraneoplastic stiff person syndrome?

A

anti-amphiphysin antibodies

63
Q

at what location is glycine an inhibitory neurotransmitter?

A

spinal interneurons

64
Q

what abnormalities are found in familial forms of hyperkeplexia?

A

glycine receptor and presynaptic glycine transproter mutations.

65
Q

which cerebellar peduncle carreis cerebellare efferents?

A

superior

66
Q

which cerebellar peduncle(s) carry cerebelllar afferents?

A

all of them

67
Q

what cerebellar structure does chronic alcoholism predominantly affect?

A

vermis

68
Q

what toxicity causes ataxia, visual field deficits and parasthesias?

A

mercury

69
Q

what is the trinucleotide repeat in freidrich ataxia? What chromosome? What mode of inheritence?

A

GAA, Chr 9, AR

70
Q

what medication improves cardiomyopathy in Freidrich ataxia?

A

Idebenone, a CoQ10 analogue

71
Q

childhood onset neuropathy, ataxia, and inability to move eyes without head thrust, telangiectasias, immunodeficiency and blood malignancies.

What gene and chromosome?

A

Ataxia-Telangiectasia. ATM, Chr 11

72
Q

onset in 30s-40s, ataxia, face and tongue atrophy, dysphagia and neuropathy.

A

SCA3

73
Q

what trinucleotide repeat, gene and chromosome is involved in SCA3? What is the inheritence?

A

CAG, ataxin 3, Chr14, AD.

74
Q

tremor, ataxia, parkinsonism, dysautonomia, cognitive decline and grandchild with mental retardation. MRI findings below.

A

Fragile X tremor ataxia syndrome, 55-200 repeats of CGG in FMR1 on X chromosome.

75
Q

ataxia, parkinism, cataracts with elevated serum cholestanol.

A

cerebrotendinous xanthomatosis

76
Q

what is the frequency of orthostatic tremor?

A

14-16 Hz

77
Q

Parkinsonism and this MRI

A

Fahr’s disease

78
Q

disorder with this MRI

A

PKAN

79
Q

injury to what structure causes choreathetosis

A

contralateral anterior ventral portion of the caudate

80
Q

which SCA has latera onset and normal life span?

A

SCA 6

81
Q

which disorders are dominantly inherited and have CAG repeats?

A

SCA 1,2,3,6,7 and DRPLA

82
Q

what gene is affected in DRPLA?

A

atrophin

83
Q

What is the inheritence of DJ-1 related parkinsonism?

A

AR

84
Q

what gene causes inherited parkinsons has autonomic features and premature death? What is inheritence?

A

SCNA (alpha syneuclein), AD

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