title: Novel mutation in the ALS2 gene in juvenile amyotrophic lateral sclerosis.
abstract: We present a 32-year-old Turkish male with juvenile amyotrophic lateral sclerosis 2 and a previously unrecognized homozygous deletion in exon 4 of the ALS2 gene (553delA). Disease progression is more rapid than in the ALS2 phenotype cases described to date. The patient's consanguineous parents carry the mutation in the heterozygous state as do his two unaffected brothers.
authors.affiliation: Department of Human Genetics, University of Giessen, Giessen, Germany.
authors.forename: Julia A
authors.initials: JA
authors.lastname: Kress
authors.forename: Peter
authors.initials: P
authors.lastname: Kühnlein
authors.forename: Pia
authors.initials: P
authors.lastname: Winter
authors.forename: Albert C
authors.initials: AC
authors.lastname: Ludolph
authors.forename: Jan
authors.initials: J
authors.lastname: Kassubek
authors.forename: Ulrich
authors.initials: U
authors.lastname: Müller
authors.forename: Anne-Dorte
authors.initials: AD
authors.lastname: Sperfeld
mesh_terms: D000328:Adult; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D018450:Disease Progression; D005091:Exons; D005500:Follow-Up Studies; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*
chemical_list: C438187:ALS2 protein, human; D020662:Guanine Nucleotide Exchange Factors