Article
Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS).
PloS one - 24 Mar 2010
Cox Laura E, Ferraiuolo Laura, Goodall Emily F, Heath Paul R, Higginbottom Adrian, Mortiboys Heather, Hollinger Hannah C, Hartley Judith A, Brockington Alice, Burness Christine E, Morrison Karen E, Wharton Stephen B, Grierson Andrew J, Ince Paul G, Kirby Janine, Shaw Pamela J
Abstract excerpt
BACKGROUND: Amyotrophic lateral sclerosis (ALS), a common late-onset neurodegenerative disease, is associated with fronto-temporal dementia (FTD) in 3-10% of patients. A mutation in CHMP2B was recently identified in a Danish pedigree with autosomal dominant FTD. Subsequently, two unrelated patients with familial ALS, one of whom also showed features of FTD, were shown to carry missense mutations in CHMP2B. The...
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