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Expanding the genetics of amyotrophic lateral sclerosis and frontotemporal dementia

Jennifer C Schymick12* and Bryan J Traynor2

Author Affiliations

1 University of California Irvine School of Medicine, Irvine, CA 92697, USA

2 Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, NIA, NIH, Bethesda, MD 20892, USA

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Alzheimer's Research & Therapy 2012, 4:30  doi:10.1186/alzrt133

Published: 26 July 2012


Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized clinically by rapidly progressive paralysis leading ultimately to death from respiratory failure. It is now recognized that ALS and frontotemporal lobar degeneration (FTLD) form a clinical spectrum of disease with overlapping clinical, pathological and genetic features. This past year, the genetic causes of ALS have expanded to include mutations in the genes OPTN, VCP, and UBQLN2, and the hexanucleotide repeat expansion in C9ORF72. The C9ORF72 repeat expansion solidifies the notion that ALS and FTLD are phenotypic variations of a disease spectrum with a common molecular etiology. Furthermore, the C9ORF72 expansion is the genetic cause of a substantial portion of apparently sporadic ALS and FTLD cases, showing that genetics plays a clear role in sporadic disease. Here we describe the progress made in the genetics of ALS and FTLD, including a detailed look at how new insights brought about by C9ORF72 have both broadened and unified current concepts in neurodegeneration.