帕金森症和黑质纹状体功能障碍与6型脊髓小脑共济失调（SCA6）相关。
Parkinsonism and nigrostriatal dysfunction are associated with spinocerebellar ataxia type 6 (SCA6).
作者信息
Khan Naheed L, Giunti Paola, Sweeney Mary G, Scherfler Christoph, Brien Michael O, Piccini Paola, Wood Nicholas W, Lees Andrew J
机构信息
Department of Molecular Neurosciences, Institute of Neurology, London, United Kingdom.
出版信息
Mov Disord. 2005 Sep;20(9):1115-9. doi: 10.1002/mds.20564.
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.
脊髓小脑共济失调6型（SCA6）是一种由于CACNA1A基因三核苷酸重复扩增导致的缓慢进展性、迟发性小脑共济失调。我们描述了两例无亲缘关系的表现为帕金森综合征和小脑共济失调的病例。一例对左旋多巴有反应，其（18）F - 多巴摄取模式类似于帕金森病，另一例对左旋多巴无反应且有非典型的黑质纹状体功能障碍模式。我们认为，与脊髓小脑共济失调2型（SCA2）和脊髓小脑共济失调3型（SCA3）一样，SCA6可能与因黑质丢失和多巴胺能功能障碍所致的帕金森综合征有关。此外，个别病例可能会与多系统萎缩相混淆。
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