title: Autosomal recessive mutilating sensory neuropathy with spastic paraplegia maps to chromosome 5p15.31-14.1.
abstract: Autosomal recessive ulcero-mutilating neuropathy with spastic paraplegia is a very rare disease since only few cases were described up to date. We report in this study a consanguineous Moroccan family with four affected males with this syndrome. The disease onset was in early infancy, with spastic paraplegia and sensory loss leading to mutilating acropathy. Electrophysiological studies revealed a severe axonal sensory neuropathy, magnetic resonance imaging ruled out compression of spinal cord and biological investigations showed decreased levels of Apo B, total cholesterol and triglycerides. A genomewide search was conducted in this family and linkage was found to chromosome 5p. Analysis of recombination events and LOD score calculation map the responsible gene in a 25 cM genetic interval between markers D5S2054 and D5S648. A maximum LOD score value of 3.92 was obtained for all markers located in this candidate interval. This study establishes the presence of a locus for autosomal recessive mutilating sensory neuropathy with spastic paraplegia on chromosome 5p15.31-14.1.
authors.affiliation: Service de Neurologie et de Neurogénétique, Hôpital des Spécialités, Rabat, Morocco. abouhouche@hotmail.com
authors.forename: Ahmed
authors.initials: A
authors.lastname: Bouhouche
authors.forename: Ali
authors.initials: A
authors.lastname: Benomar
authors.forename: Naima
authors.initials: N
authors.lastname: Bouslam
authors.forename: Reda
authors.initials: R
authors.lastname: Ouazzani
authors.forename: Taïeb
authors.initials: T
authors.lastname: Chkili
authors.forename: Mohamed
authors.initials: M
authors.lastname: Yahyaoui
mesh_terms: D002874:Chromosome Mapping; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D005808:Genes, Recessive / Q000235:genetics; D006239:Haplotypes / Q000235:genetics; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000235:genetics*; D006801:Humans; D008126:Lod Score; D008297:Male; D009018:Morocco; D010264:Paraplegia / Q000235:genetics*; D010375:Pedigree