Parkinsonism and nigrostriatal dysfunction are associated with spinocerebellar ataxia type 6 (SCA6)

被引：35

作者：

Khan, NL

Giunti, P

Sweeney, MG

Scherfler, C

Brien, MO

Piccini, P

Wood, NW

Lees, AJ

机构：

[1] Royal Free Hosp, Reta Lila Weston Inst Neurol Studies, London W1P 6DB, England

[2] Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England

[3] Hammersmith Hosp, Imperial Coll, Fac Med, MRC,Clin Sci Ctr, London, England

[4] Hammersmith Hosp, Imperial Coll, Fac Med, Div Neurosci, London, England

[5] Guys Hosp, Dept Neurol, London SE1 9RT, England

[6] UCL, Sch Med, London W1P 6DB, England

来源：

MOVEMENT DISORDERS | 2005年 / 20卷 / 09期

基金：

英国医学研究理事会;

关键词：

SCA6; cerebellar ataxia; CACNA1Al (18)F dopa PET; parkinsonism;

D O I：

10.1002/mds.20564

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

SCA6 is a slowly progressive, late-onset cerebellar ataxia due to a trinucleotide expansion in the CACNA1A gene. We describe two unrelated cases that presented with Parkinsonism and cerebellar ataxia. One case was L-dopa-responsive with a pattern of (18)F-dopa uptake similar to Parkinson's disease, and the second case was not L-dopa-responsive and had an atypical pattern of nigrostriatal dysfunction. We suggest that SCA6, in common with SCA2 and SCA3, may be associated with Parkinsonism attributable to nigral loss and dopaminergic dysfunction. Moreover, isolated cases may be confused with multiple system atrophy. (C) 2005 Movement Disorder Society.

引用

页码：1115 / 1119

页数：5

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