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J Alzheimers Dis. 2010;22(3):765-9.

FUS mutations in frontotemporal lobar degeneration with amyotrophic lateral sclerosis.

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CRicm INSERM UMRS_975, Hôpital de la Pitié-Salpêtrière, Paris, France.


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 low, our study enlarges the phenotypes associated with FUS mutations and shows that FUS could also play a direct pathogenic role in FTLD spectrum of diseases.

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