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 |
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| Rok vydání: | 2005 |
| Předmět: |
Male
Pathology medicine.medical_specialty Genes Recessive Locus (genetics) Neurological disorder Gene mapping Genetic linkage Genetics Spastic medicine Humans Hereditary Sensory and Autonomic Neuropathies Genetics (clinical) Paraplegia business.industry Chromosome Mapping Sensory loss medicine.disease Spinal cord Pedigree Morocco medicine.anatomical_structure Haplotypes Chromosomes Human Pair 5 Lod Score business |
| 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 |
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