The SCA17 phenotype can include features of MSA-C, PSP and cognitive impairment

被引：52
作者：
Lin, I-Sheng
Wu, Ruey-Meei
Lee-Chen, Guey-Jen
Shan, Din-E
Gwinn-Hardy, Katrina
机构：
[1] Natl Taiwan Univ, Dept Neurol, Coll Med, Natl Taiwan Univ Hosp, Taipei 100, Taiwan
[2] Natl Taiwan Normal Univ, Dept Biol, Taipei, Taiwan
[3] Vet Gen Hosp, Neurol Inst, Taipei, Taiwan
[4] NINCDS, Div Neurogenet, Bethesda, MD 20892 USA
来源：
PARKINSONISM & RELATED DISORDERS | 2007年 / 13卷 / 04期
关键词：
SCA17; TATA box-binding protein (TBP); MSA; PSP; Taiwanese;
D O I：
10.1016/j.parkreldis.2006.04.009
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
Spinocerebellar ataxia (SCA) 17 is a dominant neurodegenerative disorder characterized by ataxia, cognitive decline, dystonia, and parkinsonism. The disease is caused by unstable cytosine-adenine-guanine (CAG) trinucleotide expansion mutation coding for polyglutamine tracts in the TATA box-binding protein (TBP), a general transcription initiation factor. Herein, we report a SCA17 case with a phenotype not previously reported, which consisted of progressive ataxia, autonomic dysfunction, parkinsonism, supranuclear palsy and cognitive impairment. Cerebrospinal fluid study and 18F-dopa PET scanning demonstrated dopamine deficiency and nigrostrital degeneration. This case expands the current phenotype associated with SCA17. SCA17 should be considered in the differential diagnosis of cases resembling multiple system atrophy, especially those with atypical features. (C) 2006 Elsevier Ltd. All rights reserved.
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收藏
页码：246 / 249
页数：4
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