title: Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis.
abstract: Amyotrophic lateral sclerosis (ALS) is a rapidly progressive, adult-onset motor neuron disease that arises as a dominantly inherited trait in approximately 10% of ALS cases. Mutations in one gene, cytosolic Cu/Zn superoxide dismutase (SOD1), account for approximately 25% of familial ALS (FALS) cases. We have performed a genetic linkage screen in 16 pedigrees with FALS with no evidence for mutations in the SOD1 gene and have identified novel ALS loci on chromosomes 16 and 20. The analysis of these genes will delineate pathways implicated as determinants of motor-neuron viability and provide insights into possible therapies for ALS.
authors.affiliation: Cecil B. Day Laboratory for Neuromuscular Research, Massachusetts General Hospital East, Charlestown, MA 02129, USA.
authors.forename: Peter C
authors.initials: PC
authors.lastname: Sapp
authors.forename: Betsy A
authors.initials: BA
authors.lastname: Hosler
authors.forename: Diane
authors.initials: D
authors.lastname: McKenna-Yasek
authors.forename: Wendy
authors.initials: W
authors.lastname: Chin
authors.forename: Amity
authors.initials: A
authors.lastname: Gann
authors.forename: Hilary
authors.initials: H
authors.lastname: Genise
authors.forename: Julie
authors.initials: J
authors.lastname: Gorenstein
authors.forename: Michael
authors.initials: M
authors.lastname: Huang
authors.forename: Wen
authors.initials: W
authors.lastname: Sailer
authors.forename: Meg
authors.initials: M
authors.lastname: Scheffler
authors.forename: Marianne
authors.initials: M
authors.lastname: Valesky
authors.forename: Jonathan L
authors.initials: JL
authors.lastname: Haines
authors.forename: Margaret
authors.initials: M
authors.lastname: Pericak-Vance
authors.forename: Teepu
authors.initials: T
authors.lastname: Siddique
authors.forename: H Robert
authors.initials: HR
authors.lastname: Horvitz
authors.forename: Robert H
authors.initials: RH
authors.lastname: Brown
mesh_terms: D000328:Adult; D000368:Aged; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D002874:Chromosome Mapping; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D006239:Haplotypes; D006801:Humans; D008126:Lod Score; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D013482:Superoxide Dismutase / Q000235:genetics; D000072105:Superoxide Dismutase-1
chemical_list: C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1