Article
SCA2 trinucleotide expansion in German SCA patients.
Neurogenetics - 1 May 1997
Riess O, Laccone F A, Gispert S, Schöls L, Zühlke C, Vieira-Saecker A M, Herlt S, Wessel K, Epplen J T, Weber B H, Kreuz F, Chahrokh-Zadeh S, Meindl A, Lunkes A, Aguiar J, Macek M, Krebsová A, Macek M, Bürk K, Tinschert S, Schreyer I, Pulst S M, Auburger G
Abstract excerpt
Autosomal dominant spinocerebellar ataxias (SCA) are a group of clinically and genetically heterogeneous neurodegenerative disorders which lead to progressive cerebellar ataxia. A gene responsible for SCA type 2 has been mapped to human chromosome 12 and the disease causing mutation has been identified as an unstable and expanded (CAG)n trinucleotide repeat. We investigated the (CAG)n repeat length of the SCA2...
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