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a Department of Neurology, b Department of Pediatrics/Hematology and Oncology, c Department of Surgery (Head and
Neck), UCLA School of Medicine, Los Angeles, California, USA
Correspondence to: Dr Robert W Baloh, UCLA Department of Neurology, Box 951769, Los Angeles, CA 90095-1769, USA. Telephone 001 310 825 5910; fax 001 310 206 1513; email:rwbaloh{at}ucla.edu
Received 18 December 1997 and in revised form 9 March 1998;
Accepted 19 March 1998
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.
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M B Muzaimi, C M Wiles, N P Robertson, D Ravine, and D A S Compston Task specific focal dystonia: a presentation of spinocerebellar ataxia type 6 J. Neurol. Neurosurg. Psychiatry, October 1, 2003; 74(10): 1444 - 1445. [Full Text] [PDF]
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