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

Research output: Contribution to journalArticle

49 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)246-249
Number of pages4
JournalParkinsonism and Related Disorders
Volume13
Issue number4
DOIs
Publication statusPublished - 2007 May 1

Keywords

  • MSA
  • PSP
  • SCA17
  • TATA box-binding protein (TBP)
  • Taiwanese

ASJC Scopus subject areas

  • Neurology
  • Geriatrics and Gerontology
  • Clinical Neurology

Fingerprint Dive into the research topics of 'The SCA17 phenotype can include features of MSA-C, PSP and cognitive impairment'. Together they form a unique fingerprint.

  • Cite this