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KMID : 0861220010030020151
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Journal of the Korean Society Clinical Neurophysiology
2001 Volume.3 No. 2 p.151 ~ p.155
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Pure Cerebellar Ataxia Presenting in the SCA 1
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Song Eun-Hyang
Lee Chung-Seok
Kim Woo-Jung
Kim Doo-Eung
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Abstract
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SCA 1 is an autosomal dominant disorder. The phenotypic manifestations of SCA 1 are not specific, and thus, the diagnosis of SCA 1 rests on molecular genetic testing. The number of CAG repeats ranges from 6-44 in normal alleles and from 39-81 repeats in disease-causing alleles(chromosomal locus 6p22-23). The main clinical features of SCA 1 are ataxia, dysarthria, ophthalmoparesis, extrapyramidal signs without retinal degeneration. A 24-years old woman with suspected family history presented with progressive cerebellar ataxia, dysarthria, ptosis, titubation and general weakness. Brain MRI revealed a moderate cerebellar atrophy. A genomic polymerase chain reaction(PCR) analysis showed 66 repeats at the SCA 1 locus.
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KEYWORD
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CAG repeat, SCA 1
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