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FUS mutations in frontotemporal lobar degeneration with amyotrophic lateral sclerosis
2010
Journal of Alzheimer's Disease
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Rapid advances were made in the knowledge of amyotrophic lateral sclerosis (ALS) with the recent identification of TARDBP and FUS mutations in familial ALS. More recently, FUS-positive inclusions were found in a subset of TDP-43-negative frontotemporal lobar degeneration (FTLD) prompting us to analyze FUS in FTLD and FTLD-ALS patients. The p.Arg521His mutation was identified in a patient who initially had behavioral disorders and rapidly developed ALS. Although the frequency of mutations is
pmid:21158017
fatcat:fuadwbhzgbaghmdk5pmjdbbhwe