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Chen-Ching board review > Movement disorders > Flashcards

Movement disorders Flashcards

1
Q

Primary output from basal ganglia

A

Inhibitory projections from GPi/SNr to thalamus

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2
Q

Direct pathway

A

Caudate/putamen -x GPi/SNr -x Thalamus

(inhibition of inhibition = disinhbition)

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3
Q

Indirect pathway

A

Caudate/putamen -x GPe -x STN -+ GPi/SNr -x Thalamus

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4
Q

Where are inclusions in PD/DLB?

MSA?

A

PD/DLB: Neuronal intracytoplasmic inclusions (Lewy bodies)

MSA: Oligodendroglial inclusions

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5
Q

Atypical parkinsonism with retrocollis?

Anterocollis?

A

Retrocollis: PSP

Anterocollis: MSA

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6
Q

Hot cross bun sign

A

MSA

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7
Q

What are astereognosis and agraphesthesia?

What are they associated with?

A

Astereognosis: inability to recognize object in hand

Agraphesthesia: inability to recognize numbers/letters drawn in hand

Both a/w CBS

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8
Q

Secondary parkinsonism associated with “cock walk” (toe walking with elbow flexion)

A

Manganese toxicity

(Also a/w psych sx - “manganese madness”)

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9
Q

Genetic cause of Wilson’s disease

A

AR mutation, in copper-transporting P-type ATPase, ATP7B (leads to inability to excrete copper into bile)

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10
Q

“Panda sign” - what is it, what is is seen?

A

T2 hyperintensity in midbrain but sparing red nucleus (“eyes”) and substantia nigra (“ears”)

Seen in Wilson’s disease

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11
Q

MRI findings in Wilson’s disease

A

T2 hyperintensity in putamen and also midbrain (sparing red nucleus and SN, leading to “giant panda sign”)

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12
Q

Treatment of Wilson’s disease

A
  1. Penicillamine or trientine
  2. Zn supplementation (impairs copper absorption)
  3. Low copper diet
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13
Q

Genetic disease associated with orolingual dystonias (e.g. tongue protrusion dystonia)

A

Chorea-acanthocytosis, a form of neuroacanthocytosis

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14
Q

Genetic cause fo chorea-acanthocytosis

A

AR, mutation in VPS13A (vacuolar protein sorting-associated protein 13A, aka chorein),

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15
Q

Neurocanthocytosis associated with low cholesterol and vitamin E

A

Abetalipoproteinemia

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16
Q

Genetic cause of DRPLA

A

AD, CAG repeat in ATN1 (atrophin 1)

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17
Q

3 forms of neuroacanthocytosis

A
  1. Chorea-achanthocytosis
  2. Abetalioproteinemia
  3. McLeod disease
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18
Q

Genetic cause of abetalipoproteinemia

A

AR, mutation in MTTP (microsomal triglyceride transfer protein)

(Involved_in_synthesis_of_some_beta-lipoproteins,_leads_to_inability_to_form_chylomicrons_and_VLDL)

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19
Q

Neurological manifestations of abetalipoproteinemia?

A
  1. Ataxia
  2. Peripheral neuropathy
  3. Vision loss due to retinosis pigmentosa
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20
Q

Typical initial presentation of abetalipoproteinemia?

A

FTT w abdominal distension and steatorrhea in early childhood

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21
Q

What 2 related genetic movement disorders commonly have seizures?

A

Chorea-achanthocytosis and Mcleod syndrome (both neuro-acanthocytosis)

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22
Q

Genetic syndrome with dystonia and myoclonus

A

DYT1, aka myoclonus-dystonia syndrome

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23
Q

X-linked syndrome with dystonia and parkinsonism

A

DYT3

24
Q

Adult-onset craniocervical dystonia with laryngeal involvement

A

DYT6

25
Q

Genetic dystonia with diurnal variation, worse in afternoon and evening

A

Dopa-responsive dystonia

26
Q

Most common genetic cause of dopa-responsive dystonia

A

AD mutation in GCH1 (GTP cyclohydrolase I) - involved in dopamine synthesis pathway.

27
Q

Lesions where can lead to palatal myoclonus?

A

Guillain-Mollaret Triangle:
1. Dentate nucleus in cerebellum
2. Inferior olive
3. Red nucleus
(Can also be idiopathic)

(Mnemonic:_tooth_eating_olive_with_red_pepper)

28
Q

Time courses of paroxysmal kinesigenid dyskinias (PKD), paroxysmal nonkinesigenid dyskinesia (PNKD), and paroxysmal exertional dyskinesias (PEDs).

Which responds to ASMs?

WHich may respond t ketogenic diet?

A

PKD: seconds - 5 minutes. Responds to ASMs.

PNKD: 2 minutes - hours.

PED: 5-30 minutes, rarely 2 hours. May respond to keto diet if due to GLUT1 mutation

29
Q

One genetic cause linkes to each of paroxysmal kinesigenid dyskinias (PKD), paroxysmal nonkinesigenid dyskinesia (PNKD), and paroxysmal exertional dyskinesias (PEDs).

A

PKD: PRRT2

PNKD: MR-1

PED: GLUT1

30
Q

Features of episodic ataxia types I - IV: clinical pattern and duration

A

EA1: Ataxia + Facial twitching + myokymia or neuromyotonia. Seconds-minutes (can be triggered by startle, movement, or exercise)

EA2: Ataxia + Nystagmus and dysarthria. Minutes to hours (can be triggered by stress or alcohol)

EA3: Ataxia + tinnitus and vertigo (myokymia between attacks)

EA4: Ataxia + eye motion abnormalities

31
Q

POtential treatments for episodic ataxias 1, 2, 3

A

EA1: ASMs
EA2: Acetazolamide
EA4: Acetazolamide

32
Q

Genes associated with EA1 and EA2

A

EA1: KCNA1

EA2: CACNA1A (also a/w familial hemiplegic migraine, different mutations a/w SCA6)

33
Q

Genes in which neurotransmitter are associated with hyperkplexia (exaggerated startle that does not habituate)

A

Glycine (inhibitory transmitter in spinal interneuronas)

34
Q

Primary output cell of the cerebellar cortex?

Where do they project?

Neurotransmitter?

A

Purkinje cells

Project to deep cerebellar nuclei (dentate, emboliform, globose - which in turn send excitatory signals to the thalamus)

GABA

35
Q

Where to fibers from deep cerebellar nuclei travel to as they leave the cerebellum?

Where do they synapse?

A

Ipsilateral superior cerebellar peduncle -> Contralateral thalamus

36
Q

Which peduncles do afferent and efferent fibers to the cerebellum pass through?

A

Efferent: Superior Cerbellar Peduncle only

Afferent: All 3 peduncles (although a minority of fibers in superior cerebellar peduncle)

37
Q

Which SCA is associated with retinopathy leading to vision loss?

A

SCA7

38
Q

Syndrome of ataxia, parkinsonism, and neuropsychiatric symptoms associated with tendon xanthomas?

Diagnostic test?

Treatment

A

Cerebrotendinous xanthomatosis (AR defect in pathways that metabolize cholesterols to bile acids)

Serum cholestANOL (cholesterol can be normal and is not specific)

Tx: Chenodeoxycholic acid (bile acid, will replace bile acids and lower cholestanol levels)

(Statins may also be used)

39
Q

What is striopallidodentate calcinosis a.k.a. Fahr’s disease?

What are causes (5)?

A

Basal ganglia and cerebellar calcium deposition leading to parkinsonism and ataxia

  1. Idiopathic
  2. Genetic (multiple forms, can be AD or AR(
  3. Secondary hypERparathyroidism (e.g. in ESRD)
  4. Primary hyERparathyroidism
  5. HypOparathyroidism
40
Q

What is the ligand used in DAT scan?

Where does it bind?

A

I123 ioflupane

Binds to presynaptic dopamine transporter (cocaine analog)

(Therefore, reflects projections to putamen rather than putamen itself)

41
Q

What is the “eye of the tiger” sign?

What disease is it classically associated with (although nonspecific)?

A

Globus pallidus hypointensity with central hyperintensity

Classically associated with PKAN (most common NBIA)

42
Q

What are two NBIA disorders most commonly presenting in adulthood?

A

Neuroferritinopathy and aceruloplasminemia

43
Q

NBIA associated with prominent cerebellar atrophy

Associated mutation?

A

PLAN (PLA2G6-associated neurodegeneration)

Phospholipase mutation

(Also seen in FAHN)

44
Q

NBIA associated with “eye of the tiger” sign on MRI?

Associated mutation?

A

PKAN (pantothene-kinase associated neurodegeneration)

A/w gene of same name

45
Q

NBIA associated with iron deposition in substantia nigra as well as GP?

Associated mutation?

A

MPAN (mitochondrial membrane protein-associated neurodegeneration)

C19orf12 mutation

46
Q

NBIA associated with T1 halo of hyperintensity surrounding substantia nigra (“halo sign”)

Associated mutation?

A

BPAN (beta-propellor protein-associated neurodegeneration) - also associated with early psychomotor regression leading to static encephlopathy in childhood

Mutation in WDR45 (WD repeat domain 45)

47
Q

NBIA associated with prominent white matter changes on MRI

Associated mutation?

A

FAHN (fattya-acid hydroxylase-associated neurodegeneration) - due to mutation in same gene

48
Q

NBIA associated with oculogyric dystonic spasms and facial-faucial finger mini-myoclonus?

Associated mutation?

A

Kufor-Rakeb syndrome (KRS)

ATP13A2 mutation (AR)

49
Q

NBIA associated with iron deposition in GP but also cortex, caudate, and putamen?

Associated mutation?

A

Neuroferritinopathy

Ferritin light chain mutations

50
Q

NBIA associated with iron deposition in caudate, putamen, red nucleus, and thalamus?

Associated mutation?

A

Aceruloplasminemia

Ceruloplasmin mutations

51
Q

Antibodies associated with stiff-person syndrome (2?

A

GAD
Ampiphysin (paraneoplastic

52
Q

Ataxia associated with high arched feet?

A

Friedreich’s ataxia

53
Q

Ataxias with high maternal serum alpha-fetoprotein while affected is in utero?

A

Ataxia-telangiectasia

Ataxia with oculomotor apraxia (AOM) type 2

54
Q

Number of repeats for FXTAS?

A

55-200.

(>200 = fragile X syndrome)

55
Q

Medication that improves cardiac outcomes in Friedreich’s ataxia?

A

Idebenone (CoQ10 analogue)

Chen-Ching board review (15 decks)

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