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.
| Original language | English |
|---|---|
| Journal | European Journal of Human Genetics |
| Volume | 9 |
| Issue number | 3 |
| Pages (from-to) | 160-164 |
| Number of pages | 5 |
| ISSN | 1018-4813 |
| DOIs | |
| Publication status | Published - 05.04.2001 |
Funding
We would like to thank J Atici and U Gehlken for excellent technical help. This work was supported by the Forschungsförderungsprogramm der Medizinischen Universität Lübeck (1799/N03) and the Fritz Thyssen Stiftung, Köln (AZ 1999 2060). We thank all patients for providing blood samples for scientific research and their physicians for collecting them. We thank the German Heredo-Ataxia Society (DHAG), whose cooperation is essential in our work.
