Autosomal recessive mutilating sensory neuropathy with spastic paraplegia maps to chromosome 5p15.31-14.1.
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.
Bouhouche
Ahmed
A
Service de Neurologie et de Neurogénétique, Hôpital des Spécialités, Rabat, Morocco. abouhouche@hotmail.com
Benomar
Ali
A
Bouslam
Naima
N
Ouazzani
Reda
R
Chkili
Taïeb
T
Yahyaoui
Mohamed
M
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