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Ann Clin Neurophysiol > Volume 3(2); 2001 > Article
Ann Clin Neurophysiol. 2001; 3(2): 151-155.
Pure Cerebellar Ataxia Presenting in the SCA 1
Eun-Hyang Song, Chung-Seok Lee, woo-Jung Kim, and Doo-Eung Kim
Copyright © 2001 The Korean Society of Clinical Neurophysiology
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
ABSTRACT
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.
Key words: CAG repeat, SCA 1
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