Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis.
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.
Sapp
Peter C
PC
Cecil B. Day Laboratory for Neuromuscular Research, Massachusetts General Hospital East, Charlestown, MA 02129, USA.
Hosler
Betsy A
BA
McKenna-Yasek
Diane
D
Chin
Wendy
W
Gann
Amity
A
Genise
Hilary
H
Gorenstein
Julie
J
Huang
Michael
M
Sailer
Wen
W
Scheffler
Meg
M
Valesky
Marianne
M
Haines
Jonathan L
JL
Pericak-Vance
Margaret
M
Siddique
Teepu
T
Horvitz
H Robert
HR
Brown
Robert H
RH
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
C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1