title: Familial ALS in Germany: origin of the R115G SOD1 mutation by a founder effect.
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.
authors.affiliation: Institute of Human Genetics, Justus-Liebig-University, Giessen, Germany. Stephan.Niemann@humangenetik.med.uni-giessen.de
authors.forename: S
authors.initials: S
authors.lastname: Niemann
authors.forename: H
authors.initials: H
authors.lastname: Joos
authors.forename: T
authors.initials: T
authors.lastname: Meyer
authors.forename: S
authors.initials: S
authors.lastname: Vielhaber
authors.forename: U
authors.initials: U
authors.lastname: Reuner
authors.forename: M
authors.initials: M
authors.lastname: Gleichmann
authors.forename: R
authors.initials: R
authors.lastname: Dengler
authors.forename: U
authors.initials: U
authors.lastname: Müller
mesh_terms: D000328:Adult; D000368:Aged; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D005838:Genotype; D005858:Germany; D006801:Humans; D008297:Male; D008875:Middle Aged; D017422:Sequence Analysis, DNA; D013482:Superoxide Dismutase / Q000235:genetics*; D000072105:Superoxide Dismutase-1
chemical_list: C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1