Mutation analysis of the TATA box-binding protein (TBP) gene in Chinese Han patients with spinocerebellar ataxia

Q Xu; X H Li; J L Wang; H Jiang; S Zhang; L F Lei; L Shen; K Xia; Q Pan; Z G Long; B S Tang

doi:10.1016/j.jocn.2009.05.004

Mutation analysis of the TATA box-binding protein (TBP) gene in Chinese Han patients with spinocerebellar ataxia

J Clin Neurosci. 2009 Oct;16(10):1374-5. doi: 10.1016/j.jocn.2009.05.004. Epub 2009 Jul 5.

Authors

Q Xu¹, X H Li, J L Wang, H Jiang, S Zhang, L F Lei, L Shen, K Xia, Q Pan, Z G Long, B S Tang

Affiliation

¹ Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, Hunan, China.

PMID: 19581089
DOI: 10.1016/j.jocn.2009.05.004

Abstract

Spinocerebellar ataxia type 17 (SCA17) is a rare autosomal dominant progressive neurodegenerative disease caused by the CAG/CAA expansion in the TATA box-binding protein (TBP) gene. This study aimed to assess the frequency of SCA17 in patients from mainland China. Analysis of CAG/CAA expansion in this gene was performed in 263 patients consisting of 100 probands with dominantly inherited ataxias and 163 patients with sporadic ataxias. Abnormal expansion of CAG/CAA repeats in the SCA17 locus was found in a proband and her younger sister. To our knowledge, we are providing the first kindred analysis of SCA17 in mainland China.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adult
Asian People / ethnology*
DNA Mutational Analysis / methods
Family Health
Female
Gene Frequency
Genetic Predisposition to Disease*
Genotype
Humans
Male
Middle Aged
Mutation / genetics*
Retrospective Studies
Spinocerebellar Ataxias / genetics*
TATA-Box Binding Protein / genetics*
Trinucleotide Repeat Expansion / genetics

Substances

TATA-Box Binding Protein
TBP protein, human