Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis

被引：90

作者：

Sapp, PC

Hosler, BA

McKenna-Yasek, D

Chin, W

Gann, A

Genise, H

Gorenstein, J

Huang, M

Sailer, W

Scheffler, M

Valesky, M

Haines, JL

Pericak-Vance, M

Siddique, T

Horvitz, HR

Brown, RH

机构：

[1] Massachusetts Gen Hosp E, Cecil B Day Lab Neuromuscular Res, Charlestown, MA 02129 USA

[2] MIT, Howard Hughes Med Inst, Dept Biol, Cambridge, MA USA

[3] Vanderbilt Univ, Med Ctr, Program Human Genet, Nashville, TN USA

[4] Duke Univ, Ctr Human Genet, Durham, NC USA

[5] Northwestern Univ, Feinberg Sch Med, Davee Dept Neurol & Clin Neurosci, Chicago, IL 60611 USA

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2003年 / 73卷 / 02期

关键词：

D O I：

10.1086/377158

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Amyotrophic lateral sclerosis (ALS) is a rapidly progressive, adult-onset motor neuron disease that arises as a dominantly inherited trait in similar to10% of ALS cases. Mutations in one gene, cytosolic Cu/Zn superoxide dismutase (SOD1), account for similar to25% 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.

引用

页码：397 / 403

页数：7

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