Spinocerebellar ataxia type 6 with positional vertigo and acetazolamide responsive episodic ataxia.
The SCA6 mutation, a small expansion of a CAG repeat in a calcium channel gene CACNA1A, was identified in three pedigrees. Point mutations in other parts of the gene CACNA1A were excluded and new clinical features of SCA6 reported--namely, central positional nystagmus and episodic ataxia responsive to acetazolamide. The three allelic disorders, episodic ataxia type 2, familial hemiplegic migraine, and SCA6, have overlapping clinical features.
Department of Neurology, UCLA School of Medicine, Los Angeles, California, USA.
J C
JC
Jen
Q
Q
Yue
J
J
Karrim
S F
SF
Nelson
R W
RW
Baloh
D000086:Acetazolamide / Q000627:therapeutic use*; D000328:Adult; D000368:Aged; D000927:Anticonvulsants / Q000627:therapeutic use*; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics; D011187:Posture; D013132:Spinocerebellar Degenerations / Q000150:complications* / Q000188:drug therapy* / Q000235:genetics; D013997:Time Factors; D014717:Vertigo / Q000175:diagnosis / Q000209:etiology*
D000927:Anticonvulsants; D000086:Acetazolamide