title: SMN1 gene study in three families in which ALS and spinal muscular atrophy co-exist.
abstract: Spinal muscular atrophy (SMA) is caused by SMN1 gene deletions or mutations, and ALS is the most frequent motor neuron condition in adults. The authors describe three families in which ALS and SMA coexist. The authors found that no SOD1 mutation was found within these families; all three ALS cases had at least two SMN1 copies; and an abnormal SMN1 gene locus did not explain the co-occurrence of these two motor neuron disorders in these families.
authors.affiliation: INSERM U316, Tours, France. corcia@med.univ-tours.fr
authors.forename: P
authors.initials: P
authors.lastname: Corcia
authors.forename: J
authors.initials: J
authors.lastname: Khoris
authors.forename: P
authors.initials: P
authors.lastname: Couratier
authors.forename: V
authors.initials: V
authors.lastname: Mayeux-Portas
authors.forename: E
authors.initials: E
authors.lastname: Bieth
authors.forename: B
authors.initials: B
authors.lastname: De Toffol
authors.forename: A
authors.initials: A
authors.lastname: Autret
authors.forename: J P
authors.initials: JP
authors.lastname: Müh
authors.forename: C
authors.initials: C
authors.lastname: Andres
authors.forename: W
authors.initials: W
authors.lastname: Camu
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000150:complications* / Q000235:genetics*; D017362:Cyclic AMP Response Element-Binding Protein; D005192:Family Health; D005260:Female; D018628:Gene Dosage; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D009134:Muscular Atrophy, Spinal / Q000150:complications* / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins; D013482:Superoxide Dismutase / Q000235:genetics; D000072105:Superoxide Dismutase-1; D055533:Survival of Motor Neuron 1 Protein
chemical_list: D017362:Cyclic AMP Response Element-Binding Protein; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins; C526471:SMN1 protein, human; C000606290:SOD1 protein, human; D055533:Survival of Motor Neuron 1 Protein; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1