|
|||||
|
|
Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis |
|
| Authors: | Sapp Peter C Hosler Betsy A McKenna-Yasek Diane Chin Wendy Gann Amity Genise Hilary Gorenstein Julie Huang Michael Sailer Wen Scheffler Meg Valesky Marianne Haines Jonathan L Pericak-Vance Margaret Siddique Teepu Horvitz H Robert Brown Robert H |
| Affiliation: | 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. |
| Keywords: | |
| 本文献已被 ScienceDirect PubMed 等数据库收录！ | |
