title: Survival and respiratory decline are not related to homozygous SMN2 deletions in ALS patients.
abstract: The presence of the SMN2 deletion in 124 patients with ALS was investigated. Eleven patients had the homozygous deletion of SMN2 (8.8%) in comparison with 20 of 200 (10%) of the healthy control population. No significant differences in sex, age at onset, initial symptoms, form of inheritance, decline in ventilatory function, or survival time were found between patients with and without the deletion. The hypothesis that SMN2 is a prognostic factor in sporadic or familial ALS was not confirmed in this study.
authors.affiliation: Department of Neurology, Hospital General Vall d'Hebron, Barcelona, Spain. 12784jgc@comb.es
authors.forename: J
authors.initials: J
authors.lastname: Gamez
authors.forename: M J
authors.initials: MJ
authors.lastname: Barceló
authors.forename: X
authors.initials: X
authors.lastname: Muñoz
authors.forename: F
authors.initials: F
authors.lastname: Carmona
authors.forename: I
authors.initials: I
authors.lastname: Cuscó
authors.forename: M
authors.initials: M
authors.lastname: Baiget
authors.forename: C
authors.initials: C
authors.lastname: Cervera
authors.forename: E F
authors.initials: EF
authors.lastname: Tizzano
mesh_terms: D000328:Adult; D000368:Aged; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics* / Q000401:mortality*; D017362:Cyclic AMP Response Element-Binding Protein; D018450:Disease Progression; D005260:Female; D017353:Gene Deletion; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics*; D011379:Prognosis; D016601:RNA-Binding Proteins; D015656:Respiratory Mechanics; D055532:SMN Complex Proteins; D016019:Survival Analysis; D055540:Survival of Motor Neuron 2 Protein; D014797:Vital Capacity
chemical_list: D017362:Cyclic AMP Response Element-Binding Protein; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins; C526477:SMN2 protein, human; D055540:Survival of Motor Neuron 2 Protein