Autosomal recessive mutilating sensory neuropathy with spastic paraplegia maps to chromosome 5p15.31–14.1

Autor: Ali Benomar, Ahmed Bouhouche, Naima Bouslam, T. Chkili, Mohamed Yahyaoui, Reda Ouazzani
Rok vydání: 2005
Předmět:
Zdroj: European Journal of Human Genetics. 14:249-252
ISSN: 1476-5438
1018-4813
Popis: 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.
Databáze: OpenAIRE