RNA That Gets RAN in Neurodegeneration

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Science  15 Mar 2013:
Vol. 339, Issue 6125, pp. 1282-1283
DOI: 10.1126/science.1236450

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Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are devastating neuromuscular and cognitive diseases, respectively, with substantial clinical, genetic, and neuropathological overlap (1). Mutation in the gene C9orf72 is the most common genetic defect underlying these two diseases (2, 3). On page 1335 of this issue, Mori et al. (4) report that a "repeat expansion" mutation in C9orf72 causes an unusual defect in RNA metabolism that may contribute to ALS, FTD, and other neurological disorders.