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Familial ALS in Germany: origin of the R115G SOD1 mutation by a founder effect

2004; BMJ; Volume: 75; Issue: 8 Linguagem: Inglês

10.1136/jnnp.2003.028324

1468-330X

Stephan Niemann,

biodegradable polymer synthesis and properties

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.