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.
Jen
J C
JC
Department of Neurology, UCLA School of Medicine, Los Angeles, California, USA.
Yue
Q
Q
Karrim
J
J
Nelson
S F
SF
Baloh
R W
RW
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