Abstract
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 (
Original language | English |
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Pages (from-to) | 224-230 |
Journal | Archives of Neurology |
Volume | 67 |
Issue number | 2 |
DOIs | |
Publication status | Published - 2010 |