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Article

Homozygous SMN2 deletion is a protective factor in the Swedish ALS population.

European journal of human genetics : EJHG - 1 May 2012

Corcia Philippe, Ingre Caroline, Blasco Helene, Press Rayomand, Praline Julien, Antar Catherine, Veyrat-Durebex Charlotte, Guettard Yves-Olivier, Camu William, Andersen Peter M, Vourc'h Patrick, Andres Christian R

Abstract excerpt

Abnormal survival motor neuron 1 (SMN1)-copy number has been associated with an increased risk of amyotrophic lateral sclerosis (ALS) in French and Dutch population studies. The aim of this study was to determine whether SMN gene copy number increases the risk of ALS or modulates its phenotype in a cohort of Swedish sporadic ALS (SALS) patients. In all, 502 Swedes with SALS and 502 Swedish controls matched for...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 22274580
DOI: 10.1038/ejhg.2011.255
PMCID: PMC3330228

Genes

SMN1
SMN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

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Research trail→

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Homozygous SMN2 deletion is a protective factor in the Swedish ALS population.PMID 22274580Read ↗

SMN1 gene, but not SMN2, is a risk factor for sporadic ALS.Semantic proximity Read ↗

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Homozygous SMN1 deletions in unaffected family members and modification of the phenotype by SMN2.Semantic proximity Read ↗

Robust quantification of the SMN gene copy number by real-time TaqMan PCR.Semantic proximity Read ↗

No major progranulin genetic variability contribution to disease etiopathogenesis in an ALS Italian cohort.Semantic proximity Read ↗

Genetic study of SMA patients without homozygous SMN1 deletions: identification of compound heterozygotes and characterisation of novel intragenic SMN1 mutations.Semantic proximity Read ↗

Investigation of the role of SMN1 and SMN2 haploinsufficiency as a risk factor for Hirayama's disease: clinical, neurophysiological and genetic characteristics in a Spanish series of 13 patients.Semantic proximity Read ↗

Homozygous deletion of the survival motor neuron 2 gene is a prognostic factor in sporadic ALSSemantic proximity Read ↗

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