Sporadic SCA8 mutation resembling corticobasal degeneration

被引：18
作者：
Baba, Y
Uitti, RJ
Farrer, MJ
Wszolek, ZK
机构：
[1] Mayo Clin, Dept Neurol, Jacksonville, FL 32224 USA
[2] Mayo Clin, Sect Neurosci, Jacksonville, FL 32224 USA
来源：
PARKINSONISM & RELATED DISORDERS | 2005年 / 11卷 / 03期
关键词：
corticobasal degeneration; clinical presentation; spinocerebellar ataxia type 8; sporadic;
D O I：
10.1016/j.parkreldis.2004.10.008
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
Spinocerebellar ataxia type 8 (SCA8) is caused by the expansion of CTA/CTG triplet repeats on 13q21. Cases can be familial or sporadic. The clinical findings include cerebellar ataxia with upper motor neuron dysfunction, dysphagia, peripheral sensory disturbances, or cognitive and psychiatric impairments, indicating phenotypic variability in SCA8. We report on a patient with rapidly progressive parkinsonism-plus syndrome resembling corticobasal degeneration and triplet expansions in the SCA8 locus. The relationship between clinical phenotype and triplet expansions in the SCA8 locus requires further study. (c) 2004 Elsevier Ltd. All rights reserved.
引用
收藏
页码：147 / 150
页数：4
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