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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Brown, Robert H. Gorenstein, Julie Gann, Amity Sailer, Wen Sapp, Peter C. Haines, Jonathan L. McKenna-Yasek, Diane Horvitz, H. Robert Scheffler, Meg Siddique, Teepu Pericak-Vance, Margaret Hosler, Betsy A. Genise, Hilary Huang, Michael Chin, Wendy Valesky, Marianne |
| Description | Country affiliation: United States Author Affiliation: Sapp PC ( Cecil B. Day Laboratory for Neuromuscular Research, Massachusetts General Hospital East, Charlestown, MA 02129, USA.) |
| 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. |
| ISSN | 00029297 |
| e-ISSN | 15376605 |
| Journal | The American Journal of Human Genetics |
| Issue Number | 2 |
| Volume Number | 73 |
| Language | English |
| Publisher | Cell Press (on behalf of American Society of Human Genetics) |
| Publisher Date | 2003-08-01 |
| Publisher Place | United States |
| Access Restriction | Open |
| Subject Keyword | Amyotrophic Lateral Sclerosis Genetics Chromosome Mapping Chromosomes, Human, Pair 16 Chromosomes, Human, Pair 20 Genes, Dominant Haplotypes Lod Score Pedigree Superoxide Dismutase Research Support, Non-u.s. Gov't Research Support, U.s. Gov't, P.h.s. Discipline Human Genetics |
| Content Type | Text |
| Resource Type | Article |
| Subject | Genetics Genetics (clinical) |
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