Yocom 1 Flashcards
What are the four cardinal dysfunctions for the cerebellum?
Ataxia, tremor, hypotonia, asthenia
What does ataxia mean?
Incoordainated muscular contractions
What are the sign of ataxia?
Broad based gait, broad based stance, dysmetria, DDK
What test do you use to appendicular coordination?
Finger-nose-finger
Heel-to-shin
IN the finger-nose-finger what is and overshoots/undershoots called?
Dysmetria
What is the test for DDK?
Rapid alternating movements of pronation/supination of the hands and strike the legs as fast as they can
What can be seen in hypotonia with a deep tendon reflex?
Cerebellar pts will swing their leg (for patellar reflex) like a pendulum
What is nystagmus?
Involuntary eye movements and repetitive oscillary movements that consist of a fast and slow phase in one or both eyes
Which movement of nystagmus is indicative of pathology?
The direction of the slow phase
How is the motion of nystagmus described?
In the direction of the fast phase
What is a saccades?
Eye movement with only a phase phase
When would you see asthenia?
Acute cerebellar hemisphreal injuries
What should be asked in the history for an ataxia?
Age of onset, time of course, progression
If you find an acute ataxia what is the likely cause?
Vascular, metabolic/toxic, inflammatory, traumatic
If you find chronic ataxia what is the likely cause?
Genetic, degenerative, tumor
What other things should be be asked for in ataxia regarding symptoms?
N&V, systemic weight loss, GI symptoms, autonomic dysfunction, neural issues
What is a very common cause for ataxia?
Medications (phenytoin, barbs, lithium, chemo)
What types of examinations should be done for an ataxia?
Bedside testing of cerebellar function, comprehensive neurological exam, general physical
What are the congenital ataxias?
Cerebellar aplasia, cerebellar hypoplasia, vermian aplsia, dandy-walker, joubert syndrome
What are the general principles to Spinocerebellar ataxia (SCA)?
Autosomal dominant, CAG repeat expansion, polyglut disorder, toxic gain of function, earlier age of onset with paternal transmission
When is the onset in SCA1?
3rd - 4th decade (3-16% prevalence)
What is the course of SCA1?
Disability w/i 5 yrs, wheel chair 10 yrs, death 10-20 yrs
What are the main signs of SCA1?
Cerebellar ataxia, pyramidal signs, neuropathy
What will be seen in an EMG and MRI for SCA1?
EMG: axonal polyneuropathy
MRI: cerebellar and pontine atrophy
When is the onset of SCA2?
3rd - 4th decade (15% prevalence)
What is the shared overlap of SCA2 with SCA1 and SCA3?
Dysarthria, tremor, hyporeflexia, neuropathy, slow saccades, parkinsonism
What is the couse of SCA2?
Medial survival 25 yrs
What will be seen in an EMG and MRI for SCA2?
EMG: axonal sensory neuropathy
MRI: cerebellar and pontine atrophy
Which is the most common SCA?
SCA3 (23-36%)
When is the onset for SCA3?
3rd - 4th decade (range 5-70 yrs)
What are the clinical features?
Pyramidal, extrapyramidal, parkinsonism, neuropathy, eye bulge
What will be seen in an EMG and MRI for SCA3?
Axonal polyneuropathy
MRI: marked 4th ventricle enlargement
What are the genetic features of Dentatorubral-pallidoluysian atrophy (DRPLA)?
Expanded CAG repeat, 12p13.31, atrophin-1, toxin gain of function
What demographic is DRPLA seen in?
Japanese, Haw River
When in the onset for DRPLA?
1st - 6th decade
Juvi - PME-like
Adult - Huntington’s-like
What are the clinical features of DRPLA?
Ataxia, choreoathetosis, dementia, epilepsy
What would you see on an MRI for DRPLA?
Cerebellar and brainstem atrophy, basal ganglia calc, white matter changes
What is the neuropathology for DRPLA?
Degeneration fo red nuc, dentate, STN, globus pallidus
What is the neuropathology for SCA3?
Cerebellar, basal gnaglia, brainstem, spinal cord degeneration
What is the neuropathology for SCA2?
Cerebellar, brainstem, nigral, post column degeneration
What is the neuropathology for SCA1?
Cerebellar, potine, post column, SCBT degeneration
What is the most common hereditary ataxia?
Friedreich’s (FRDA)
What is the clinical phenotype of FRDA?
Onset adolescence
May present w/ cardiac or skeletal issues
What is the neuropathology for FRDA?
Degeneration of SCBT, dorsal columns, pyramid tracts and DRGs
What are the genetic features of FRDA?
GAA expansion repeat, 9q13-q21.1, frataxin (Fe transport)
Loss of function
When is the onset of ataxia telangiectasia (AT)?
1-2 yrs of age
What clinical outcomes in AT?
Wheelchair by age 10, death in 5th decade
What are the genetic features of AT?
11q22-23, ATM gene (repairs DNA)
What are the clinical phenotypes for Ataxia w/ occulomotor apraxia?
French-Canadians, childhood onset, elevated immunoglobulins
What are the genetic features of ataxia w/ occulomotor apraxia?
9q34, senataxin
What is the clinical phenotype associated with ataxia w/ vit E def (A VED)?
North Africa, onset within 20 yrs, similar to FRDA, tetinitis pigmentosa, low vit E
What is the treatment for A VED?
Vit E
What is the clinical phenotype for abetalipoproteinemia?
Similar to A VED w/ GI mal-absorption, low beta-lipo
What are the genetic features of abetalipoproteinemia?
Mutations of MTP, 4q22-q24, impaired apoB of LDL and vLDLD
What is the treatment for abetalipoproteinemia?
Vit E and fat soluble vits
What is the clinical phenotype of Refsum’s disease?
Onset from birth until adolescence, diabetes, skeletal issues, demyelination, deafness, retinitis pigementosa
What type of disorder is Refsum’s disease?
Peroxisomal (phytanic acid)
What is the treatment for Refsum’s disease?
Restrict phytanic acid
What is Cerebrotendinous xanthomatosis?
A lipid storage disorder that occurs after puberty, impaired bile production
2q33
What is the treatment for Cerebrotendinous xanthomatosis?
Chenodeoxycholic acid
What is the clinical phenotype of AR spastic ataxia of Charlevoix-Saguenay?
French-Canadian, childhood onset, mitral valve prolapse, hammer toes, slow progression
13p12
Which ataxia is X-linked?
Fragile X tremor (FXTAS)
What are the clinical phenotypes of FXTAS?
More boys than girls, after 50, gait, cognitive decline, premature ovarian failure, intranuclear lesions in brain/SpCd
What are the genetic features for FXTAS?
Expanded CGG repeat, FMR gene, Xq27.3, elevated FMR1 mRNA
