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Phenotypic and genotypic studies of ALS cases in ALS-SMA families.

Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Aug 2018

Corcia Philippe, Vourc'h Patrick, Blasco Helene, Couratier Philippe, Dangoumau Audrey, Bellance Remi, Desnuelle Claude, Viader Fausto, Pautot Vivien, Millecamps Stephanie, Bakkouche Salah, Salachas FranÇois, Andres Christian R, Meininger Vincent, Camu William

Abstract excerpt

BACKGROUND: Amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA) are the most frequent motor neuron disorders in adulthood and infancy, respectively. There is a growing literature supporting common pathophysiological patterns between those disorders. One important clinical issue for that is the co-occurrence of both diseases within a family. OBJECTIVES: To collect families in which ALS and SMA...

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Source

Identifiers

PMID: 29493298
DOI: 10.1080/21678421.2018.1440406

Genes

SMN1
SOD1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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