Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
6806168 | Neurobiology of Aging | 2014 | 5 Pages |
Abstract
Mutations in C9ORF72, SOD1, TARDBP, and FUS genes account for approximately two-third of familial cases and 5% of sporadic amyotrophic lateral sclerosis (ALS) cases. We present the first case of an ALS patient carrying a de novo nonsense mutation in exon 14 of the FUS gene (c.1483c>t; p.R495X) with an apparently familial ALS. This mutation causes a phenotype characterized by a young age at onset, a rapid course (<24 months), and a bulbar onset with early respiratory involvement with a predominant lower motor neuron disease. De novo mutations could account for a sizable number of apparently sporadic ALS patients carrying mutations of ALS-related genes.
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Authors
Andrea Calvo, Cristina Moglia, Antonio Canosa, Maura Brunetti, Marco Barberis, Bryan J. Traynor, Giovanna Carrara, Consuelo Valentini, Gabriella Restagno, Adriano Chiò,