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Article

Exome sequencing reveals SPG11 mutations causing juvenile ALS.

Neurobiology of aging - 1 Apr 2012

Daoud Hussein, Zhou Sirui, Noreau Anne, Sabbagh Mike, Belzil Veronique, Dionne-Laporte Alexandre, Tranchant Christine, Dion Patrick, Rouleau Guy A

Abstract excerpt

We report here the description of a nonconsanguineous family with 2 affected individuals with a recessively inherited juvenile motor neuron disease. Exome sequencing of these 2 affected individuals led us to identify 2 compound heterozygous deletions leading to a frameshift and a premature stop codon in the SPG11 gene. One of these deletions, c.5199delA in exon 30, has not been previously reported. Interestingly,...

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Source

Identifiers

PMID: 22154821
DOI: 10.1016/j.neurobiolaging.2011.11.012

Genes

SPG11

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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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