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

I. Sheng Lin, Ruey Meei Wu*, Guey Jen Lee-Chen, Din E. Shan, Katrina Gwinn-Hardy

*此作品的通信作者

研究成果: 雜誌貢獻期刊論文同行評審

60 引文 斯高帕斯(Scopus)

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.

原文英語
頁(從 - 到)246-249
頁數4
期刊Parkinsonism and Related Disorders
13
發行號4
DOIs
出版狀態已發佈 - 2007 5月

ASJC Scopus subject areas

  • 神經內科
  • 老年病學和老年學
  • 神經病學(臨床)

指紋

深入研究「The SCA17 phenotype can include features of MSA-C, PSP and cognitive impairment」主題。共同形成了獨特的指紋。

引用此