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Neurobiol Aging. 2014 Jun;35(6):1513.e7-11. doi: 10.1016/j.neurobiolaging.2013.12.028. Epub 2013 Dec 27.

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

Author information

1
"Rita Levi Montalcini" Department of Neuroscience, ALS Center, University of Torino, Torino, Italy.
2
Laboratory of Molecular Genetics, Azienda Ospedaliera Città della Salute e della Scienza, Torino, Italy.
3
Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
4
Department of Neuroradiology, Azienda Ospedaliera Città della Salute e della Scienza, Torino, Italy.
5
"Rita Levi Montalcini" Department of Neuroscience, ALS Center, University of Torino, Torino, Italy; Neuroscience Institute of Torino, Torino, Italy. Electronic address: achio@usa.net.

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.

KEYWORDS:

Amyotrophic lateral sclerosis; FUS; de novo mutation

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