title: Genetic homogeneity between childhood-onset and adult-onset autosomal recessive spinal muscular atrophy.
abstract: Molecular diagnosis of childhood proximal spinal muscular atrophy has been enhanced by the discovery of the survival motor neuron (SMN) gene, which is absent or truncated in 98.6% of patients. To determine whether deletion analysis of the SMN gene may also be diagnostic for adult-onset disease, we studied six patients and found deletions in all. This finding will facilitate the diagnosis of adult-onset spinal muscular atrophy, and provides evidence for genetic homogeneity between the clinically diverse adult and childhood forms of the disease.
authors.affiliation: Institute of Medical Genetics, A Gemelli School of Medicine, Catholic University, Rome, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Brahe
authors.forename: S
authors.initials: S
authors.lastname: Servidei
authors.forename: S
authors.initials: S
authors.lastname: Zappata
authors.forename: E
authors.initials: E
authors.lastname: Ricci
authors.forename: P
authors.initials: P
authors.lastname: Tonali
authors.forename: G
authors.initials: G
authors.lastname: Neri
mesh_terms: D000328:Adult; D000368:Aged; D005260:Female; D017353:Gene Deletion; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D008875:Middle Aged; D009046:Motor Neurons / Q000378:metabolism; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis / Q000235:genetics*; D014897:Spinal Muscular Atrophies of Childhood / Q000235:genetics*