title: Molecular analysis and electromyoneurographic abnormalities in Croatian children with proximal spinal muscular atrophies.
abstract: Childhood onset proximal spinal muscular atrophy presents with considerable clinical variability. This study included 14 Croatian children aged 11 days to 8 years with spinal muscular atrophy types I-III verified clinically and electromyoneurographically. DNA of affected children was screened for deletions of exons 7 and 8 of the survival motor neuron gene and for deletion of exon 5 of the neuronal apoptosis inhibitor protein gene. Motor nerve conduction velocity and compound muscle action potential amplitude were decreased in children with spinal muscular atrophy type I and II. Deletions of exons 7 and 8 of the survival motor neuron gene and of exon 5 of the neuronal apoptosis inhibitor protein gene in children with spinal muscular atrophy type I-II suggested existence of more genetic abnormalities as compared to type III. A decrease in compound muscle action potential amplitude and motor nerve conduction velocity in children with spinal muscular atrophy correlated with the disease severity, probably as a result of axonal degeneration. Phenotypic severity in children onset spinal muscular atrophy is directly correlated with the extent of survival motor neuron and neuronal apoptosis inhibitor protein exon deletions.
authors.affiliation: Department of Pediatrics, Zagreb University Hospital Center, Croatia.
authors.forename: N
authors.initials: N
authors.lastname: Barisić
authors.forename: J
authors.initials: J
authors.lastname: Sertić
authors.forename: C
authors.initials: C
authors.lastname: Billi
authors.forename: I
authors.initials: I
authors.lastname: Barić
authors.forename: V
authors.initials: V
authors.lastname: Sarnavka
authors.forename: T
authors.initials: T
authors.lastname: Babić
authors.forename: P
authors.initials: P
authors.lastname: Hrabac
authors.forename: D
authors.initials: D
authors.lastname: Begović
authors.forename: L
authors.initials: L
authors.lastname: Florentin
authors.forename: A
authors.initials: A
authors.lastname: Stavljenić-Rukavina
mesh_terms: D002648:Child; D002675:Child, Preschool; D017362:Cyclic AMP Response Element-Binding Protein; D004576:Electromyography / Q000379:methods; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009134:Muscular Atrophy, Spinal / Q000235:genetics* / Q000503:physiopathology*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010641:Phenotype; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins; D012720:Severity of Illness Index
chemical_list: D017362:Cyclic AMP Response Element-Binding Protein; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins