FUS mutations in familial amyotrophic lateral sclerosis in the Netherlands

TY - JOUR

T1 - FUS mutations in familial amyotrophic lateral sclerosis in the Netherlands

AU - Groen, E.J.

AU - van Es, M.A.

AU - van Vught, P.W.

AU - Spliet, W.G.M.

AU - van Engelen-Lee, J.

AU - de Visser, M.

AU - Wokke, J.H.

AU - Schelhaas, H.J.

AU - Ophoff, R.A.

AU - Fumoto, K.

AU - Pasterkamp, R.J.

AU - Dooijes, D.

AU - Cuppen, E.

AU - Veldink, J.H.

AU - van den Berg, L.

N1 - Reporting year: 2010

PY - 2010

Y1 - 2010

N2 - 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 (

AB - 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 (

U2 - 10.1001/archneurol.2009.329

DO - 10.1001/archneurol.2009.329

M3 - Article

SN - 0003-9942

VL - 67

SP - 224

EP - 230

JO - Archives of Neurology

JF - Archives of Neurology

IS - 2

ER -