title: SMN gene analysis of the spinal form of Charcot-Marie-Tooth disease.
abstract: The spinal form of Charcot-Marie-Tooth disease (spinal CMT) is a rare genetic disorder of the peripheral nervous system, the genetic basis of which remains unknown. To test the hypothesis that a defect of survival motor neuron (SMN), the determining gene for spinal muscular atrophy (SMA), would result in spinal CMT, 18 unrelated spinal CMT patients were studied. Nine of them were sporadic cases and the other nine belonged to unrelated autosomal dominant pedigrees. None of the 18 patients showed deletions involving SMN exons 7 or 8, the most frequent gene alteration found in SMA. In addition, haplotype analysis in two large autosomal dominant pedigrees showed that the 5q13 locus was not segregating with the spinal CMT locus. Therefore, neither the sporadic nor the familial cases of spinal CMT are associated with a SMN gene deletion, nor are the familial cases linked to the 5q13 region, indicating that this neuropathy is genetically different from SMA.
authors.affiliation: Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM, Paris, France.
authors.forename: A
authors.initials: A
authors.lastname: Hanash
authors.forename: E
authors.initials: E
authors.lastname: Leguern
authors.forename: N
authors.initials: N
authors.lastname: Birouk
authors.forename: O
authors.initials: O
authors.lastname: Clermont
authors.forename: J
authors.initials: J
authors.lastname: Pouget
authors.forename: P
authors.initials: P
authors.lastname: Bouche
authors.forename: A
authors.initials: A
authors.lastname: Munnich
authors.forename: A
authors.initials: A
authors.lastname: Brice
authors.forename: J
authors.initials: J
authors.lastname: Melki
mesh_terms: D002607:Charcot-Marie-Tooth Disease / Q000209:etiology / Q000235:genetics*; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics; D017362:Cyclic AMP Response Element-Binding Protein; D005091:Exons; D005260:Female; D005799:Genes, Dominant; D006239:Haplotypes; D006801:Humans; D008297:Male; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins
chemical_list: D017362:Cyclic AMP Response Element-Binding Protein; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins