movement disorders Flashcards by Andra Dingman

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

AD, young onset, prominent psychiatric features

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

AR, young onset, prominent dystonia.

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

LRRK2 mutation, AD.

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what are the features of PARK4 related parkinsonism?

psychiatric features and blephorspasm.

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which structures comprise the striatum?

Caudate and putamen

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what structures comprise the lentiform nucleus?

putamen and globus pallidus

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

Striatum

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which structures give rise to outputs from the basal ganglia?

Gpi and SNr

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

VL/VA. inhibitory

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

motor and premotor cortex. Excitatory.

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draw the direct pathway

net effect is to promote movement

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draw the indirect pathway

net effet is to inhibit movement

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what is the role of the SNc?

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

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

D1, excitatory

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

D2, Inhibitory

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

Glutamate

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

GABA

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

D2 antagonists.

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

nonselective MAOIs

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what is the mechanism of action of Entacapone?

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

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what is the mechanism of action of Rpinirole and pramipexole?

D2 and D3 agonists (ie inhibit the indirect pathway)

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what is the mechanism of action of Rasagiline and selegiline?

MAOB inhibitors, ie inhibit dopamine metabolism

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what is the mechanism of action of Trihexyphenidyl?

anti-cholinergic. Useful for treating tremor.

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what is the main side effect of slegiline?

insomnia

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what are main side effects of pramipexole and ropinerole?

somnolence and impulse control problems.

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

PSP

what parkinson's plus syndrome is repersented?

PSP=hummingbird sign

what kind of "opathy" is PSP?

tau

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

MSA

what parkinson plus syndrome is depicted?

MSA= hot cross bun

what type of "opathy" is MSA?

syneuclopathy

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

CBGD

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

vascular parkinsonism

what form of parkinsonism affects welders and people on TPN?

Manganese toxicity.

what is the frequency of essential tremor?

4-8 Hz

how can essential tremor and enhanced physiologic tremor be distinguished?

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

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

rubral tremor. Dentate of cerebellum or superior cerebellar peduncle.

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

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

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

CAG, Chr 4

what gene is affected in benign hereditary chorea?

gene for TTF

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

acanthocytosis. AD or X-linked recessive.

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

DRPLA.

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

CAG on Chr 12

How can Lesch-Nyhan syndrome and acanthocytosis be distinguished?

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

injury to what nucleus causes hemibalismus?

Contralateral STN

what are 6 treatments for tardive dyskinesia

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

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

DYT1 Chr 9

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

DYT 11

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

DYT3 (Lubag)

what are medications used for dystonias?

anti-cholinergics, benzodiazepines, baclofen

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

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

what structures make up the guillain-mollaret triange?

Dentate of cerebellum, infirior olive, red nucleus

what MRI finding can be seen in symptomatic palatal myoclonus?

inferior olive hypertrophy

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

Paroxysmal kinesiogenic dyskinesia. attacks last up to 5 min.

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

PKND. Attacks last minutes to hours.

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

EA1, KCNA1 on Chr 12

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

EAII, CACN1A4.

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

EA III, AD

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

EA IV

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

stiff person syndrome

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

anti-GAD

what antibodies are present in paraneoplastic stiff person syndrome?

anti-amphiphysin antibodies

at what location is glycine an inhibitory neurotransmitter?

spinal interneurons

what abnormalities are found in familial forms of hyperkeplexia?

glycine receptor and presynaptic glycine transproter mutations.

which cerebellar peduncle carreis cerebellare efferents?

superior

which cerebellar peduncle(s) carry cerebelllar afferents?

all of them

what cerebellar structure does chronic alcoholism predominantly affect?

vermis

what toxicity causes ataxia, visual field deficits and parasthesias?

mercury

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

GAA, Chr 9, AR

what medication improves cardiomyopathy in Freidrich ataxia?

Idebenone, a CoQ10 analogue

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

Ataxia-Telangiectasia. ATM, Chr 11

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

SCA3

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

CAG, ataxin 3, Chr14, AD.

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

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

ataxia, parkinism, cataracts with elevated serum cholestanol.

cerebrotendinous xanthomatosis

what is the frequency of orthostatic tremor?

14-16 Hz

Parkinsonism and this MRI

Fahr's disease

disorder with this MRI

PKAN

injury to what structure causes choreathetosis

contralateral anterior ventral portion of the caudate

which SCA has latera onset and normal life span?

SCA 6

which disorders are dominantly inherited and have CAG repeats?

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

what gene is affected in DRPLA?

atrophin

What is the inheritence of DJ-1 related parkinsonism?

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

SCNA (alpha syneuclein), AD