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BCN Exam 3 > Yocom 1 > Flashcards

Yocom 1 Flashcards

1
Q

What are the four cardinal dysfunctions for the cerebellum?

A

Ataxia, tremor, hypotonia, asthenia

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2
Q

What does ataxia mean?

A

Incoordainated muscular contractions

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3
Q

What are the sign of ataxia?

A

Broad based gait, broad based stance, dysmetria, DDK

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4
Q

What test do you use to appendicular coordination?

A

Finger-nose-finger

Heel-to-shin

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5
Q

IN the finger-nose-finger what is and overshoots/undershoots called?

A

Dysmetria

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6
Q

What is the test for DDK?

A

Rapid alternating movements of pronation/supination of the hands and strike the legs as fast as they can

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7
Q

What can be seen in hypotonia with a deep tendon reflex?

A

Cerebellar pts will swing their leg (for patellar reflex) like a pendulum

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8
Q

What is nystagmus?

A

Involuntary eye movements and repetitive oscillary movements that consist of a fast and slow phase in one or both eyes

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9
Q

Which movement of nystagmus is indicative of pathology?

A

The direction of the slow phase

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10
Q

How is the motion of nystagmus described?

A

In the direction of the fast phase

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11
Q

What is a saccades?

A

Eye movement with only a phase phase

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12
Q

When would you see asthenia?

A

Acute cerebellar hemisphreal injuries

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13
Q

What should be asked in the history for an ataxia?

A

Age of onset, time of course, progression

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14
Q

If you find an acute ataxia what is the likely cause?

A

Vascular, metabolic/toxic, inflammatory, traumatic

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15
Q

If you find chronic ataxia what is the likely cause?

A

Genetic, degenerative, tumor

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16
Q

What other things should be be asked for in ataxia regarding symptoms?

A

N&V, systemic weight loss, GI symptoms, autonomic dysfunction, neural issues

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17
Q

What is a very common cause for ataxia?

A

Medications (phenytoin, barbs, lithium, chemo)

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18
Q

What types of examinations should be done for an ataxia?

A

Bedside testing of cerebellar function, comprehensive neurological exam, general physical

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19
Q

What are the congenital ataxias?

A

Cerebellar aplasia, cerebellar hypoplasia, vermian aplsia, dandy-walker, joubert syndrome

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20
Q

What are the general principles to Spinocerebellar ataxia (SCA)?

A

Autosomal dominant, CAG repeat expansion, polyglut disorder, toxic gain of function, earlier age of onset with paternal transmission

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21
Q

When is the onset in SCA1?

A

3rd - 4th decade (3-16% prevalence)

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22
Q

What is the course of SCA1?

A

Disability w/i 5 yrs, wheel chair 10 yrs, death 10-20 yrs

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23
Q

What are the main signs of SCA1?

A

Cerebellar ataxia, pyramidal signs, neuropathy

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24
Q

What will be seen in an EMG and MRI for SCA1?

A

EMG: axonal polyneuropathy
MRI: cerebellar and pontine atrophy

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25
Q

When is the onset of SCA2?

A

3rd - 4th decade (15% prevalence)

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26
Q

What is the shared overlap of SCA2 with SCA1 and SCA3?

A

Dysarthria, tremor, hyporeflexia, neuropathy, slow saccades, parkinsonism

27
Q

What is the couse of SCA2?

A

Medial survival 25 yrs

28
Q

What will be seen in an EMG and MRI for SCA2?

A

EMG: axonal sensory neuropathy
MRI: cerebellar and pontine atrophy

29
Q

Which is the most common SCA?

A

SCA3 (23-36%)

30
Q

When is the onset for SCA3?

A

3rd - 4th decade (range 5-70 yrs)

31
Q

What are the clinical features?

A

Pyramidal, extrapyramidal, parkinsonism, neuropathy, eye bulge

32
Q

What will be seen in an EMG and MRI for SCA3?

A

Axonal polyneuropathy

MRI: marked 4th ventricle enlargement

33
Q

What are the genetic features of Dentatorubral-pallidoluysian atrophy (DRPLA)?

A

Expanded CAG repeat, 12p13.31, atrophin-1, toxin gain of function

34
Q

What demographic is DRPLA seen in?

A

Japanese, Haw River

35
Q

When in the onset for DRPLA?

A

1st - 6th decade
Juvi - PME-like
Adult - Huntington’s-like

36
Q

What are the clinical features of DRPLA?

A

Ataxia, choreoathetosis, dementia, epilepsy

37
Q

What would you see on an MRI for DRPLA?

A

Cerebellar and brainstem atrophy, basal ganglia calc, white matter changes

38
Q

What is the neuropathology for DRPLA?

A

Degeneration fo red nuc, dentate, STN, globus pallidus

39
Q

What is the neuropathology for SCA3?

A

Cerebellar, basal gnaglia, brainstem, spinal cord degeneration

40
Q

What is the neuropathology for SCA2?

A

Cerebellar, brainstem, nigral, post column degeneration

41
Q

What is the neuropathology for SCA1?

A

Cerebellar, potine, post column, SCBT degeneration

42
Q

What is the most common hereditary ataxia?

A

Friedreich’s (FRDA)

43
Q

What is the clinical phenotype of FRDA?

A

Onset adolescence

May present w/ cardiac or skeletal issues

44
Q

What is the neuropathology for FRDA?

A

Degeneration of SCBT, dorsal columns, pyramid tracts and DRGs

45
Q

What are the genetic features of FRDA?

A

GAA expansion repeat, 9q13-q21.1, frataxin (Fe transport)

Loss of function

46
Q

When is the onset of ataxia telangiectasia (AT)?

A

1-2 yrs of age

47
Q

What clinical outcomes in AT?

A

Wheelchair by age 10, death in 5th decade

48
Q

What are the genetic features of AT?

A

11q22-23, ATM gene (repairs DNA)

49
Q

What are the clinical phenotypes for Ataxia w/ occulomotor apraxia?

A

French-Canadians, childhood onset, elevated immunoglobulins

50
Q

What are the genetic features of ataxia w/ occulomotor apraxia?

A

9q34, senataxin

51
Q

What is the clinical phenotype associated with ataxia w/ vit E def (A VED)?

A

North Africa, onset within 20 yrs, similar to FRDA, tetinitis pigmentosa, low vit E

52
Q

What is the treatment for A VED?

A

Vit E

53
Q

What is the clinical phenotype for abetalipoproteinemia?

A

Similar to A VED w/ GI mal-absorption, low beta-lipo

54
Q

What are the genetic features of abetalipoproteinemia?

A

Mutations of MTP, 4q22-q24, impaired apoB of LDL and vLDLD

55
Q

What is the treatment for abetalipoproteinemia?

A

Vit E and fat soluble vits

56
Q

What is the clinical phenotype of Refsum’s disease?

A

Onset from birth until adolescence, diabetes, skeletal issues, demyelination, deafness, retinitis pigementosa

57
Q

What type of disorder is Refsum’s disease?

A

Peroxisomal (phytanic acid)

58
Q

What is the treatment for Refsum’s disease?

A

Restrict phytanic acid

59
Q

What is Cerebrotendinous xanthomatosis?

A

A lipid storage disorder that occurs after puberty, impaired bile production
2q33

60
Q

What is the treatment for Cerebrotendinous xanthomatosis?

A

Chenodeoxycholic acid

61
Q

What is the clinical phenotype of AR spastic ataxia of Charlevoix-Saguenay?

A

French-Canadian, childhood onset, mitral valve prolapse, hammer toes, slow progression
13p12

62
Q

Which ataxia is X-linked?

A

Fragile X tremor (FXTAS)

63
Q

What are the clinical phenotypes of FXTAS?

A

More boys than girls, after 50, gait, cognitive decline, premature ovarian failure, intranuclear lesions in brain/SpCd

64
Q

What are the genetic features for FXTAS?

A

Expanded CGG repeat, FMR gene, Xq27.3, elevated FMR1 mRNA

BCN Exam 3 (8 decks)

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