SPINOCEREBELLAR ATAXIA TYPE 6 CLINICAL DIAGNOSIS

Proband is a female.
Ataxia = neurological sign Episodes of dizziness and ataxia at 42 y.o
= gross lack of coordination of muscle movements
Positional vertigo requiring several pillows when sleeping
Polyglutamine Diseases
Mild imbalance
= “CAG Triplet Repeat Disorders”
= disease-associated proteins contain Impaired tandem walking
multiple repeats of glutamine beyond a certain
boundary Acetazolamide
Spinocerebellar Ataxia - Decreases episodes of dizziness and ataxia
= around 20 to 50 CAG repeats - Uncomfortable side effects to some
= cerebellar damages
- Proband responded well
= impairment in the sensorimotor
→ poor coordination of hands, speech, and eye - 250mg acetazolamide; twice daily for three
movements years
SCA 6
=21 to 27 units of CAG repeats in the CACNA1A gene Brain MRI Scan
= “permanent and progressive cerebellar functional deficit
- Helps determine the frequency of cerebellar
and atrophy preceded by momentary imbalance”
CACNA1A Gene atrophy
=located in chromosome 19p13 - Not done on proband
Mode of Inheritance
= autosomal dominant REFERENCES

PEDIGREE ANALYSIS
 Four of five living affected family members reported
episodes of ataxia
 Proband’s father: positional vertigo at 45 y.o
 Proband’s great aunt and her daughter:
-basilar migraine beginning in teens and spontaneously
disappearing in late 20’s.
Jen, JC., et. al. Spinocerebellar ataxia type 6 with positional vertigo and acetazolamide
responsive episodic ataxia. J Neurol Neurosurg Psychiatry 1998;65:565–568
Jodice, C. et al. Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to
CAG repeat expansion in the CACNA1A gene on chromosome 19p. Human Molecular
Genetics, 1997, Vol. 6, No. 11 1973–1978.
Planells, JG. et al. Genetics of the SCA6 gene in a large family segregating an autosomal
dominant “pure’’ cerebellar ataxia. J Med. Genet. 1999;36:148–151
Zhuchenko O. et al. Autosomal dominant cerebellar ataxia (SCA6) associated with small
polyglutamine expansions in the á1A-voltage-dependent calcium channel. Nat. Genet.
1997;15:62–9.