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.

A de novo nonsense mutation of the FUS gene in an apparently familial amyotrophic lateral sclerosis case.

CALVO, Andrea;MOGLIA, Cristina;A. Canosa;CHIO', Adriano
2014

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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http://dx.doi.org/10.1016/j.neurobiolaging.2013.12.028
Adult, Age Factors, Aged, Aged; 80 and over, Amyotrophic Lateral Sclerosis; genetics, Codon; Nonsense; genetics, Exons; genetics, Female, Genetic Association Studies, Heterozygote, Humans, Male, Middle Aged, Pedigree, Phenotype, RNA-Binding Protein FUS; genetics, Time Factors, Young Adult
A. Calvo;C. Moglia;A. Canosa;M. Brunetti;M. Barberis;B. J. Traynor;G. Carrara;C. Valentini;G. Restagno;A. Chiò
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2318/153855
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