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Article

SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALS.

Neurology - 27 Sept 2005

Veldink J H, Kalmijn S, Van der Hout A H, Lemmink H H, Groeneveld G J, Lummen C, Scheffer H, Wokke J H J, Van den Berg L H

Abstract excerpt

BACKGROUND: ALS is believed to be multifactorial in origin with modifying genes affecting its clinical expression. Childhood-onset spinal muscular atrophy (SMA) is an autosomal recessive disorder of motor neurons, caused by mutations of the survival motor neuron (SMN) gene. The SMN gene exists in two highly homologous variants: SMN1, the causative gene responsible for the production of the majority of functional...

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Source

Identifiers

PMID: 16093455
DOI: 10.1212/01.wnl.0000174472.03292.dd

Genes

SMN2
SMN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

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SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALS.PMID 16093455Read ↗

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

A Comparative Study of SMN Protein and mRNA in Blood and Fibroblasts in Patients with Spinal Muscular Atrophy and Healthy ControlsSemantic proximity Read ↗

SMN mRNA and protein levels in peripheral bloodSemantic proximity Read ↗

Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy.Semantic proximity Read ↗

Correlation between SMN2 copy number and clinical phenotype of spinal muscular atrophy: three SMN2 copies fail to rescue some patients from the disease severity.Semantic proximity Read ↗

Genotype determination at the survival motor neuron locus in a normal population and SMA carriers using competitive PCR and primer extension.Semantic proximity Read ↗

Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophySemantic proximity Read ↗

Biomarker for Spinal Muscular Atrophy: Expression of SMN in Peripheral Blood of SMA Patients and Healthy ControlsSemantic proximity Read ↗

SMN1 c.5C>G (p.Ala2Gly) missense variant, a challenging molecular SMA diagnosis associated with mild disease, preserves SMN nuclear gems in patient-specific fibroblastsSemantic proximity Read ↗

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