Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia

109Citations
Citations of this article
39Readers
Mendeley users who have this article in their library.

This article is free to access.

Abstract

A novel neurological syndrome has recently been described to be associated with an expanded polyglutamine domain. The expansion results from partial duplication within the TATA-binding protein (TBP). By investigation of 604 sporadic and familial cases with various forms of neurological syndromes and 157 unaffected individuals, we found repeat expansions in the TBP in four patients of two families with autosomal dominant inheritance of ataxia, dystonia, and intellectual decline. Two different genotypes for the repetitive sequence could be demonstrated which led to elongated polyglutamine stretches between 50 and 55 residues, whereas normal alleles with 27 to a maximum of 44 glutamine residues were found in this study. The expansion to 50 or more glutamine residues results in a pathological phenotype and confirms the report of a new polyglutamine disease.

Cite

CITATION STYLE

APA

Zühlke, C., Hellenbroich, Y., Dalski, A., Hagenah, J., Vieregge, P., Riess, O., … Schwinger, E. (2001). Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia. European Journal of Human Genetics, 9(3), 160–164. https://doi.org/10.1038/sj.ejhg.5200617

Register to see more suggestions

Mendeley helps you to discover research relevant for your work.

Already have an account?

Save time finding and organizing research with Mendeley

Sign up for free