title: Clinical and genetic study of chronic (types II and III) childhood onset spinal muscular atrophy.
abstract: We have conducted a retrospective study of 63 patients affected by chronic forms of spinal muscular atrophy (SMA) to better document the natural history of this disease. Thirty-nine patients had type II and 24 type III SMA. These patients had manual muscle testing (MMT) and forced vital capacity (FVC) studies done every six to 12 months over follow up period ranging from six to 140 months. A decline in FVC was seen in both types of SMA but there was no significant change in MMT in either group. Genetic studies were also done in a subset of 17 families (23 patients) included in this study. Homozygous deletions in the telomeric survival motor neuron (SMN) and the neuronal apoptosis inhibitory protein (NAIP) genes were observed in 100% and 11.8% of the patients tested respectively.
authors.affiliation: Départment de pédiatrie, Hôpital Sainte-Justine, Université de Montréal, Québec, Canada.
authors.forename: F
authors.initials: F
authors.lastname: Souchon
authors.forename: L R
authors.initials: LR
authors.lastname: Simard
authors.forename: S
authors.initials: S
authors.lastname: Lebrun
authors.forename: C
authors.initials: C
authors.lastname: Rochette
authors.forename: J
authors.initials: J
authors.lastname: Lambert
authors.forename: M
authors.initials: M
authors.lastname: Vanasse
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002908:Chronic Disease; D003710:Demography; D005500:Follow-Up Studies; D006720:Homozygote; D006801:Humans; D007223:Infant; D009046:Motor Neurons / Q000502:physiology; D018908:Muscle Weakness / Q000503:physiopathology*; D009419:Nerve Tissue Proteins / Q000235:genetics; D051616:Neuronal Apoptosis-Inhibitory Protein; D012189:Retrospective Studies; D014897:Spinal Muscular Atrophies of Childhood / Q000235:genetics / Q000401:mortality / Q000503:physiopathology*; D016615:Telomere; D014797:Vital Capacity / Q000502:physiology*
chemical_list: C496800:NAIP protein, human; D009419:Nerve Tissue Proteins; D051616:Neuronal Apoptosis-Inhibitory Protein