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Article

Heterozygous D90A-SOD1 mutation in a patient with facial onset sensory motor neuronopathy (FOSMN) syndrome: a bridge to amyotrophic lateral sclerosis.

Journal of neurology, neurosurgery, and psychiatry - 1 Sept 2014

Dalla Bella Eleonora, Rigamonti Andrea, Mantero Vittorio, Morbin Michela, Saccucci Stefania, Gellera Cinzia, Mora Gabriele, Lauria Giuseppe

Abstract excerpt

OBJECTIVE: To describe a patient with facial onset sensory motor neuronopathy (FOSMN) syndrome associated with a heterozygous D90A mutation in superoxide dismutase (SOD1) gene. METHODS: The patient underwent neurological and neurophysiologic examinations, including blink and jaw reflexes, sural nerve and skin biopsies, and analysis of TARDBP, FUS and C9ORF72 genes. RESULTS: Neurological examination showed diffuse...

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Source

Identifiers

PMID: 24591457
DOI: 10.1136/jnnp-2013-307416

Genes

SOD1
FUS
TARDBP

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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