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Article

Pathological heterogeneity in amyotrophic lateral sclerosis with FUS mutations: two distinct patterns correlating with disease severity and mutation.

Acta neuropathologica - 1 Jul 2011

Mackenzie Ian R A, Ansorge Olaf, Strong Michael, Bilbao Juan, Zinman Lorne, Ang Lee-Cyn, Baker Matt, Stewart Heather, Eisen Andrew, Rademakers Rosa, Neumann Manuela

Abstract excerpt

Mutations in the gene encoding the fused in sarcoma (FUS) protein are responsible for ~3% of familial amyotrophic lateral sclerosis (ALS) and <1% of sporadic ALS (ALS-FUS). Descriptions of the associated neuropathology are few and largely restricted to individual case reports. To better define the neuropathology associated with FUS mutations, we have undertaken a detailed comparative analysis of six cases of...

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Identifiers

PMID: 21604077
DOI: 10.1007/s00401-011-0838-7
PMCID: PMC3319073

Genes

FUS

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Pathological heterogeneity in amyotrophic lateral sclerosis with FUS mutations: two distinct patterns correlating with disease severity and mutation.PMID 21604077Read ↗

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