Familial ALS in Germany: origin of the R115G SOD1 mutation by a founder effect
- 1Institute of Human Genetics, Justus-Liebig-University, D-35392 Giessen, Germany
- 2Department of Neurology, Charité University Hospital, D-13353 Berlin, Germany
- 3Department of Neurology, Otto-von-Guericke University, D-39120 Magdeburg, Germany
- 4Department of Neurology, Technical University of Dresden, D-01307 Dresden, Germany
- 5Department of Neurology, University of Tübingen, D-72076 Tübingen, Germany
- 6Department of Neurology, Medical School Hannover, D-30625 Hannover, Germany
- Correspondence to: Dr S Niemann Institut für Humangenetik, Justus-Liebig-Universität, Schlangenzahl 14, D-35392 Giessen, Germany; Stephan.Niemannhumangenetik.med.uni-giessen.de
- Received 15 September 2003
- Accepted 8 November 2003
- Revised 5 November 2003
Abstract
Mutations in the gene encoding Cu/Zn superoxide dismutase (SOD1) account for approximately 20% of patients with familial amyotrophic lateral sclerosis (FALS). In this study, sequence analysis of exons 1–5 of SOD1 in a large German cohort with FALS was performed. Among 75 affected patients, who were not obviously related probands with a positive family history, nine had missense mutations in SOD1. Four of the nine probands carry the same R115G mutation in exon 4 of the SOD1 gene. Genotyping with markers from the SOD1 locus revealed a common haplotype and shared allelic characteristics in these patients. These findings suggest that the R115G mutation in the German population originates from a common founder.
- ALS, amyotrophic lateral sclerosis
- FALS, familial amyotrophic lateral sclerosis
- PCR, polymerase chain reaction
- SNP, single nucleotide polymorphism
- SOD1, Cu/Zn superoxide dismutase
Footnotes
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Competing interest: none declared
