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J Clin Neurosci. 2012 Dec;19(12):1738-9. doi: 10.1016/j.jocn.2012.04.003. Epub 2012 Sep 19.

Novel FUS mutation in patients with sporadic amyotrophic lateral sclerosis and corticobasal degeneration.

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1
Department of Neurology, Kanazawa Medical University, 1-1 Daigaku, Uchinada, Kahoku-gun, Ishikawa 920-0293, Japan. say-3@kanazawa-med.ac.jp

Abstract

We report a patient with sporadic amyotrophic lateral sclerosis (ALS) with a novel fusion in malignant liposarcoma (FUS) gene mutation whose neurological signs were conspicuous left-sided rigidity and apraxia. A novel heterozygous guanine (G)-to-thymine (T) transition at position 1392, c.1392G>T, leading to a methionine-to-isoleucine substitution (p.Met464Ile), was found in exon13 of FUS. Re-sequencing of the genes for superoxide dismutase 1 (SOD1) and transactive response-DNA binding protein (TARDBP) revealed no mutations. The present findings suggest that this novel FUS mutation (p.Met464Ile) is related to manifestations of ALS as well as clinical features of corticobasal degeneration.

PMID:
22999566
DOI:
10.1016/j.jocn.2012.04.003
[Indexed for MEDLINE]
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