1. ¹Service de Neurologie et de Neurogénétique, Hôpital des Spécialités, Rabat, Morocco
2. ²Service de Neurophysiologie clinique, Hôpital des Spécialités, Rabat, Morocco

Correspondence: Dr A Bouhouche, Service de Neurologie et de Neurogénétique, Hôpital des Spécialités, BP 6402, Al Irfane, Rabat, Morocco. Tel/Fax : +212 37 77 52 61; E-mail: abouhouche@hotmail.com

Received 9 August 2005; Revised 10 October 2005; Accepted 14 October 2005; Published online 7 December 2005.

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.