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Article

ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia.

Neurology - 25 Mar 2014

Sheerin Una-Marie, Schneider Susanne A, Carr Lucinda, Deuschl Guenther, Hopfner Franziska, Stamelou Maria, Wood Nicholas W, Bhatia Kailash P

Abstract excerpt

OBJECTIVE: To determine the genetic etiology in 2 consanguineous families who presented a novel phenotype of autosomal recessive juvenile amyotrophic lateral sclerosis associated with generalized dystonia. METHODS: A combination of homozygosity mapping and whole-exome sequencing in the first family and Sanger sequencing of candidate genes in the second family were used. RESULTS: Both families were found to have...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24562058
DOI: 10.1212/WNL.0000000000000254
PMCID: PMC3962990

Genes

ALS2

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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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