FUS mutations in familial amyotrophic lateral sclerosis in the Netherlands

E.J. Groen, M.A. van Es, P.W. van Vught, W.G.M. Spliet, J. van Engelen-Lee, M. de Visser, J.H. Wokke, H.J. Schelhaas, R.A. Ophoff, K. Fumoto, R.J. Pasterkamp, D. Dooijes, E. Cuppen, J.H. Veldink, L. van den Berg

Onderzoeksoutput: Bijdrage aan wetenschappelijk tijdschrift/periodieke uitgaveArtikelWetenschappelijkpeer review

Samenvatting

OBJECTIVES: To assess the frequency of FUS mutations in 52 probands with familial amyotrophic lateral sclerosis (FALS) and to provide careful documentation of clinical characteristics. DESIGN: FUS mutation analysis was performed using capillary sequencing on all coding regions of the gene in a cohort of patients with FALS. The clinical characteristics of patients carrying FUS mutations were described in detail. SETTING: Three university hospitals in the Netherlands (referral centers for neuromuscular diseases). PATIENTS: Fifty-two probands from unrelated pedigrees with FALS. MAIN OUTCOME MEASURE: FUS mutations. RESULTS: We identified 3 mutations in 4 of 52 probands. We observed 2 previously identified mutations (p.Arg521Cys and p.Arg521His) and 1 novel mutation (p.Ser462Phe). In addition, a p.Gln210His polymorphism was identified in 1 proband and 3 healthy control subjects. Phenotypic analysis demonstrated that patients may lack upper motor neuron signs, which was confirmed at autopsy, and disease survival was short (
Originele taal-2Engels
Pagina's (van-tot)224-230
TijdschriftArchives of Neurology
Volume67
Nummer van het tijdschrift2
DOI's
StatusGepubliceerd - 2010

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