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Article

Young-onset rapidly progressive ALS associated with heterozygous FUS mutation.

Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Aug 2017

Gromicho Marta, Oliveira Santos Miguel, Pinto Anabela, Pronto-Laborinho Ana, De Carvalho Mamede

Abstract excerpt

We report a 36-years-old Cape Verdean man who presented with respiratory insufficiency due to rapidly progressive sporadic amyotrophic lateral sclerosis (ALS), in whom FUS mutation c.1551C > G (p.Hist517Gln) in heterozygosity was identified, a finding previously described as non-pathogenic. The only previous report on this mutation was in a family from Cape Verde in which four members developed ALS; all were...

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Source

Identifiers

PMID: 28288521
DOI: 10.1080/21678421.2017.1299762

Genes

FUS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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