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Article

Phenotypic heterogeneity in a SOD1 G93D Italian ALS family: an example of human model to study a complex disease.

Journal of molecular neuroscience : MN - 1 May 2011

Penco Silvana, Lunetta Christian, Mosca Lorena, Maestri Eleonora, Avemaria Francesca, Tarlarini Claudia, Patrosso Maria Cristina, Marocchi Alessandro, Corbo Massimo

Abstract excerpt

We report different clinical expression in seven members of a large family with amyotrophic lateral sclerosis (ALS) and the G93D mutation in exon 4 of the Cu/Zn superoxide dismutase (SOD1) gene. The ALS clinical course in the proband showed an unusually fast progression of the disease compared to the paucisymptomatic presentation associated to this mutation in the two previously Italian families described. The...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21120636
DOI: 10.1007/s12031-010-9480-4

Genes

SOD1
FUS
VAPB

Variants

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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