1. ¹Institute for Human Genetics, University of Luebeck, Germany
2. ²Institute of Clinical Genetics, University of Dresden, Germany

Correspondence: Dr C Zühlke, Institut für Humangenetik, Ratzeburger Allee 160, University of Luebeck, Lübeck D-23538, Germany. Tel: +49 451 500 2622; Fax: +49 451 500 4187; E-mail: zuehlke@uni-luebeck.de

Received 26 May 2004; Revised 15 July 2004; Accepted 12 August 2004; Published online 6 October 2004.

Abstract

The spinocerebellar ataxias (SCAs) with autosomal dominant inheritance are a group of neurodegenerative disorders with overlapping as well as highly variable phenotypes. Genetically, at least 25 different loci have been identified. Seven SCAs are caused by CAG trinucleotide repeat expansions, for 13 the chromosomal localization is known solely. Recently, a missense mutation in the fibroblast growth factor 14 gene (FGF14) has been reported in a Dutch family with a new dominantly inherited form of SCA. To evaluate the frequency of mutations in the FGF14 gene, we performed molecular genetic analyses for the five exons in 208 nonrelated familial ataxia cases and 208 control samples. In one patient, we detected a novel single base pair deletion in exon 4 (c.487delA) creating a frameshift mutation. In addition, we found DNA polymorphisms in exon 1a, 4, and 5, an amino-acid exchange at position 124, as well as a single-nucleotide polymorphism in the 3'-untranslated region of exon 5.