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Article

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

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia - 1 Dec 2012

Nagayama Shigemi, Minato-Hashiba Naomi, Nakata Michiyo, Kaito Muichi, Nakanishi Megumi, Tanaka Keiko, Arai Makoto, Akiyama Haruhiko, Matsui Makoto

Abstract excerpt

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,...

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Source

Identifiers

PMID: 22999566
DOI: 10.1016/j.jocn.2012.04.003

Genes

FUS
SOD1
TARDBP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22999566-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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