Article
TREM2 variant p.R47H as a risk factor for sporadic amyotrophic lateral sclerosis.
JAMA neurology - 1 Apr 2014
Cady Janet, Koval Erica D, Benitez Bruno A, Zaidman Craig, Jockel-Balsarotti Jennifer, Allred Peggy, Baloh Robert H, Ravits John, Simpson Ericka, Appel Stanley H, Pestronk Alan, Goate Alison M, Miller Timothy M, Cruchaga Carlos, Harms Matthew B
Abstract excerpt
IMPORTANCE: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease in which microglia play a significant and active role. Recently, a rare missense variant (p.R47H) in the microglial activating gene TREM2 was found to increase the risk of several neurodegenerative diseases, including Alzheimer disease. Whether the p.R47H variant is a risk factor for ALS is not known. OBJECTIVES: To determine...
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