Bouhouche Ahmed, Benomar Ali, Bouslam Naima, Ouazzani Reda, Chkili Taïeb, Yahyaoui Mohamed
Service de Neurologie et de Neurogénétique, Hôpital des Spécialités, Rabat, Morocco.
Eur J Hum Genet. 2006 Feb;14(2):249-52. doi: 10.1038/sj.ejhg.5201537.
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.
伴有痉挛性截瘫的常染色体隐性遗传性溃疡致残性神经病是一种非常罕见的疾病，因为迄今为止仅有少数病例被报道。在本研究中，我们报告了一个摩洛哥近亲家庭，其中有四名男性患有此综合征。疾病于婴儿早期发病，表现为痉挛性截瘫和感觉丧失，进而导致致残性肢端病。电生理研究显示为严重的轴索性感觉神经病，磁共振成像排除了脊髓受压，生物学检查显示载脂蛋白B、总胆固醇和甘油三酯水平降低。对该家庭进行了全基因组搜索，发现与5号染色体短臂连锁。通过对重组事件的分析和LOD评分计算，将致病基因定位于标记D5S2054和D5S648之间25厘摩的遗传区间内。位于该候选区间的所有标记获得的最大LOD评分为3.92。本研究证实了5号染色体短臂15.31 - 14.1区域存在一个与伴有痉挛性截瘫的常染色体隐性遗传性致残性感觉神经病相关的基因座。
