Spinocerebellar ataxia type 6 and episodic ataxia type 2 in a Korean family.
Spinocerebellar ataxia type 6 (SCA6), episodic ataxia type 2 (EA2) and familial hemiplegic migraine (FHM) have been known as allelic disorders, which are caused by the alteration of the alpha1A voltage-dependent calcium channel subunit. Expansions of the CAG repeat in the CACNA1A gene on the short arm of the chromosome 19 induce SCA6, and point mutations in the same gene are responsible for EA2 and FHM. In recent studies, both SCA6 and EA2 have been concurrently found in families with 26 CAG repeats without previously reported point mutations either in coding sequences or in intron-exon junctions. We describe a Korean family with CAG26 repeats in the CACNA1A gene. Some of the affected family members had progressive ataxia typical of SCA6 whereas others had episodic vertigo responsive to acetazolamide typical of EA2. Our family support that SCA6 and EA2 are allelic disorders with a high phenotypic variability.
Koh
S H
SH
Department of Neurology, Institute of Clinical Medicine, University of Hanyang, Seoul, Korea. kimht@email.hanyang.ac.kr
Kim
H T
HT
Kim
S H
SH
Lee
G Y
GY
Kim
J
J
Kim
M H
MH
D000293:Adolescent; D000328:Adult; D000368:Aged; D015220:Calcium Channels / Q000235:genetics; D002648:Child; D005192:Family Health; D005260:Female; D006801:Humans; D007723:Korea; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D020754:Spinocerebellar Ataxias / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology*; D015899:Tomography, Emission-Computed, Single-Photon; D020864:Calcium Channels, N-Type
D015220:Calcium Channels; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type