Analysis of polyglutamine-coding repeats in the TATA-binding protein in different neurodegenerative diseases

Y. R. Wu, H. C. Fung, G. J. Lee-Chen, K. Gwinn-Hardy, L. S. Ro, S. T. Chen, H. M. Hsieh-Li, H. Y. Lin, C. Y. Lin, S. N. Li, C. M. Chen*

*此作品的通信作者

研究成果: 雜誌貢獻期刊論文同行評審

21 引文 斯高帕斯(Scopus)

摘要

Trinucleotide repeat (TNR) expansion in the gene for TATA binding protein (TBP) has recently been described as causal for spinocerebellar ataxia type 17. The normal number of repeats has been considered to be 42 or less. An intermediate range with reduced penetrance has been assumed to be 43-47 CAA/CAG repeats. We examined this gene in 30 patients with autosomal-dominant cerebellar ataxia (ADCA), 35 patients with sporadic ataxia, 11 patients with Huntington's disease (HD), 351 patients with idiopathic Parkinson's disease (PD), 105 patients with Alzheimer's disease (AD), and 291 controls with no history of neurodegenerative disease. Three patients (one with sporadic PD and two with AD) carrying more than 42 TNRs in the TBP gene were identified. This reveals that the phenotype associated with CAG/CAA expansion in the TBP gene may be heterogeneous.

原文英語
頁(從 - 到)539-546
頁數8
期刊Journal of Neural Transmission
112
發行號4
DOIs
出版狀態已發佈 - 2005 四月 1

ASJC Scopus subject areas

  • 神經內科
  • 神經病學(臨床)
  • 精神病學和心理健康
  • 生物精神病學

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