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Article

A truncating SOD1 mutation, p.Gly141X, is associated with clinical and pathologic heterogeneity, including frontotemporal lobar degeneration.

Acta neuropathologica - 1 Jul 2015

Nakamura Masataka, Bieniek Kevin F, Lin Wen-Lang, Graff-Radford Neill R, Murray Melissa E, Castanedes-Casey Monica, Desaro Pamela, Baker Matthew C, Rutherford Nicola J, Robertson Janice, Rademakers Rosa, Dickson Dennis W, Boylan Kevin B

Abstract excerpt

Amyotrophic lateral sclerosis (ALS) is a degenerative disorder affecting upper and lower motor neurons, but it is increasingly recognized to affect other systems, with cognitive impairment resembling frontotemporal dementia (FTD) in some patients. We report clinical and pathologic findings of a f...

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Identifiers

PMID: 25917047
DOI: 10.1007/s00401-015-1431-2
PMCID: PMC5039014

Genes

SOD1
FUS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25917047-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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