title: Autosomal recessive hereditary neuropathy with focally folded myelin sheaths and linked to chromosome 11q23: a distinct and homogeneous entity.
abstract: We describe a six generation Saudi kindred, with a recessive hereditary motor and sensory neuropathy (HMSN). Four individuals were affected including two children (a boy and a girl) and a 23-year-old man. The fourth (a female) died at the age of 14 years. Onset of the disease was early (< 2 years) and the clinical and neurophysiological features were, generally, quite similar to those of an Italian family linked to chromosome 11q23. The peculiar pathologic pattern was irregular and redundant loops associated with folding of the myelin sheaths. The genetic study confirmed linkage to chromosome 11q23 and refined the location of the gene between D11S1311 and D11S917, a 3.3 cM region. These findings support the existence of a homogeneous and distinct entity within the form of HMSN associated with focally folded myelin sheaths.
authors.affiliation: Department of Pediatrics (39), College of Medicine, King Saud University, Riyadh, Saudi Arabia.
authors.forename: M A
authors.initials: MA
authors.lastname: Salih
authors.forename: T
authors.initials: T
authors.lastname: Maisonobe
authors.forename: M
authors.initials: M
authors.lastname: Kabiraj
authors.forename: M
authors.initials: M
authors.lastname: al Rayess
authors.forename: M H
authors.initials: MH
authors.lastname: al-Turaiki
authors.forename: M
authors.initials: M
authors.lastname: Akbar
authors.forename: A
authors.initials: A
authors.lastname: Tahan
authors.forename: J A
authors.initials: JA
authors.lastname: Urtizberea
authors.forename: D
authors.initials: D
authors.lastname: Grid
authors.forename: T
authors.initials: T
authors.lastname: Hamadouche
authors.forename: A
authors.initials: A
authors.lastname: Guilbot
authors.forename: A
authors.initials: A
authors.lastname: Brice
authors.forename: E
authors.initials: E
authors.lastname: Leguern
mesh_terms: D000328:Adult; D002675:Child, Preschool; D002880:Chromosomes, Human, Pair 11; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D005838:Genotype; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D009186:Myelin Sheath / Q000473:pathology*; D009420:Nervous System / Q000473:pathology / Q000503:physiopathology; D010375:Pedigree; D013497:Sural Nerve / Q000473:pathology