Amyotrophic lateral sclerosis (ALS) was first described by Charcot in 1869 as what we would now call a sporadic disease—a disease believed to occur without a strong genetic influence. Only within the past 10 years has it been possible to fully explore genetic influence on disorders that seem to occur sporadically but likely result from the convergence of multiple genetic and environmental factors. This article reviews the genetics of familial ALS and summarizes current investigations of genetic influence in sporadic ALS. Genetic study clearly offers the potential for identification of molecular targets that would allow development of rational therapies for various forms of ALS, but much work remains.
aNeuromuscular Disorders Program, Northwestern University, Feinberg School of Medicine, Tarry Building, Room13-715, 303 East Chicago Avenue, Chicago, IL 60611, USA
bDavee Department of Neurology and Clinical Neurosciences, Northwestern University, Feinberg School of Medicine,303 East Chicago Avenue, Chicago, IL 60611, USA
cDepartment of Cell and Molecular Biology, Northwestern University, Feinberg School of Medicine, 303 East Chicago Avenue, Chicago, IL 60611, USA
Corresponding author. Northwestern University, Feinberg School of Medicine, Tarry Building, Room 13-715, 303 East Chicago Avenue, Chicago, IL 60611.
This work was supported by the National Institute of Neurologic Disorders and Stroke (NS40308, NS050641, NS046535), the National Institute of Environmental Health Science (ES014469), Les Turner ALS Foundation, Vena E. Schaff ALS Research Fund, Harold Post Research Professorship, Herbert and Florence C. Wenske Foundation, Ralph and Marian Falk Medical Research Trust, Abbott Labs Duane and Susan Burnham Professorship, David C. Asselin MD Memorial Fund.
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