title: Analysis of the KSP repeat of the neurofilament heavy subunit in familiar amyotrophic lateral sclerosis.
abstract: We examined the neurofilament heavy subunit (NEFH) as a candidate gene for familial amyotrophic lateral sclerosis. We screened the KSP repeat region of the NEFH gene in 117 unrelated individuals who inherited familial amyotrophic lateral sclerosis as an autosomal trait but who do not have the mutation in the SOD1 locus, and we found no variants in any individual. We conclude that the motor neuron degeneration observed in non-SOD1 familial amyotrophic lateral sclerosis is not due to mutations in the KSP repeat of the NEFH gene.
authors.affiliation: Department of Neurology, Montreal General Hospital, Montreal, Quebec, Canada.
authors.forename: K
authors.initials: K
authors.lastname: Rooke
authors.forename: D A
authors.initials: DA
authors.lastname: Figlewicz
authors.forename: F Y
authors.initials: FY
authors.lastname: Han
authors.forename: G A
authors.initials: GA
authors.lastname: Rouleau
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D004247:DNA; D004586:Electrophoresis; D006801:Humans; D016900:Neurofilament Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012091:Repetitive Sequences, Nucleic Acid
chemical_list: D016900:Neurofilament Proteins; D004247:DNA