Yocom 1

Question 1

What are the four cardinal dysfunctions for the cerebellum?

Answer 1

Ataxia, tremor, hypotonia, asthenia

Question 2

What does ataxia mean?

Answer 2

Incoordainated muscular contractions

Question 3

What are the sign of ataxia?

Answer 3

Broad based gait, broad based stance, dysmetria, DDK

Question 4

What test do you use to appendicular coordination?

Answer 4

Finger-nose-finger

Heel-to-shin

Question 5

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

Answer 5

Dysmetria

Question 6

What is the test for DDK?

Answer 6

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

Question 7

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

Answer 7

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

Question 8

What is nystagmus?

Answer 8

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

Question 9

Which movement of nystagmus is indicative of pathology?

Answer 9

The direction of the slow phase

Question 10

How is the motion of nystagmus described?

Answer 10

In the direction of the fast phase

Question 11

What is a saccades?

Answer 11

Eye movement with only a phase phase

Question 12

When would you see asthenia?

Answer 12

Acute cerebellar hemisphreal injuries

Question 13

What should be asked in the history for an ataxia?

Answer 13

Age of onset, time of course, progression

Question 14

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

Answer 14

Vascular, metabolic/toxic, inflammatory, traumatic

Question 15

If you find chronic ataxia what is the likely cause?

Answer 15

Genetic, degenerative, tumor

Question 16

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

Answer 16

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

Question 17

What is a very common cause for ataxia?

Answer 17

Medications (phenytoin, barbs, lithium, chemo)

Question 18

What types of examinations should be done for an ataxia?

Answer 18

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

Question 19

What are the congenital ataxias?

Answer 19

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

Question 20

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

Answer 20

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

Question 21

When is the onset in SCA1?

Answer 21

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

Question 22

What is the course of SCA1?

Answer 22

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

Question 23

What are the main signs of SCA1?

Answer 23

Cerebellar ataxia, pyramidal signs, neuropathy

Question 24

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

Answer 24

EMG: axonal polyneuropathy
MRI: cerebellar and pontine atrophy

Question 25

When is the onset of SCA2?

Answer 25

3rd - 4th decade (15% prevalence)

Question 26

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

Answer 26

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

Question 27

What is the couse of SCA2?

Answer 27

Medial survival 25 yrs

Question 28

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

Answer 28

EMG: axonal sensory neuropathy MRI: cerebellar and pontine atrophy

Question 29

Which is the most common SCA?

Answer 29

SCA3 (23-36%)

Question 30

When is the onset for SCA3?

Answer 30

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

Question 31

What are the clinical features?

Answer 31

Pyramidal, extrapyramidal, parkinsonism, neuropathy, eye bulge

Question 32

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

Answer 32

Axonal polyneuropathy | MRI: marked 4th ventricle enlargement

Question 33

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

Answer 33

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

Question 34

What demographic is DRPLA seen in?

Answer 34

Japanese, Haw River

Question 35

When in the onset for DRPLA?

Answer 35

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

Question 36

What are the clinical features of DRPLA?

Answer 36

Ataxia, choreoathetosis, dementia, epilepsy

Question 37

What would you see on an MRI for DRPLA?

Answer 37

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

Question 38

What is the neuropathology for DRPLA?

Answer 38

Degeneration fo red nuc, dentate, STN, globus pallidus

Question 39

What is the neuropathology for SCA3?

Answer 39

Cerebellar, basal gnaglia, brainstem, spinal cord degeneration

Question 40

What is the neuropathology for SCA2?

Answer 40

Cerebellar, brainstem, nigral, post column degeneration

Question 41

What is the neuropathology for SCA1?

Answer 41

Cerebellar, potine, post column, SCBT degeneration

Question 42

What is the most common hereditary ataxia?

Answer 42

Friedreich's (FRDA)

Question 43

What is the clinical phenotype of FRDA?

Answer 43

Onset adolescence | May present w/ cardiac or skeletal issues

Question 44

What is the neuropathology for FRDA?

Answer 44

Degeneration of SCBT, dorsal columns, pyramid tracts and DRGs

Question 45

What are the genetic features of FRDA?

Answer 45

GAA expansion repeat, 9q13-q21.1, frataxin (Fe transport) | Loss of function

Question 46

When is the onset of ataxia telangiectasia (AT)?

Answer 46

1-2 yrs of age

Question 47

What clinical outcomes in AT?

Answer 47

Wheelchair by age 10, death in 5th decade

Question 48

What are the genetic features of AT?

Answer 48

11q22-23, ATM gene (repairs DNA)

Question 49

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

Answer 49

French-Canadians, childhood onset, elevated immunoglobulins

Question 50

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

Answer 50

9q34, senataxin

Question 51

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

Answer 51

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

Question 52

What is the treatment for A VED?

Answer 52

Vit E

Question 53

What is the clinical phenotype for abetalipoproteinemia?

Answer 53

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

Question 54

What are the genetic features of abetalipoproteinemia?

Answer 54

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

Question 55

What is the treatment for abetalipoproteinemia?

Answer 55

Vit E and fat soluble vits

Question 56

What is the clinical phenotype of Refsum's disease?

Answer 56

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

Question 57

What type of disorder is Refsum's disease?

Answer 57

Peroxisomal (phytanic acid)

Question 58

What is the treatment for Refsum's disease?

Answer 58

Restrict phytanic acid

Question 59

What is Cerebrotendinous xanthomatosis?

Answer 59

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

Question 60

What is the treatment for Cerebrotendinous xanthomatosis?

Answer 60

Chenodeoxycholic acid

Question 61

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

Answer 61

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

Question 62

Which ataxia is X-linked?

Answer 62

Fragile X tremor (FXTAS)

Question 63

What are the clinical phenotypes of FXTAS?

Answer 63

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

Question 64

What are the genetic features for FXTAS?

Answer 64

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