Maisonobe T
Service d'explorations fonctionnelles-neurologie, Hôpital de La Salpêtrière, Paris.
Rev Prat. 2000 Apr 1;50(7):736-42.
Hereditary neuropathies are the most frequent genetically determined disease in neurology. The peripheral motor and sensory form is the Charcot-Marie-Tooth disease. The underlying genetic defects are now known for many of the demyelinating form. Several studies have identified the mutations on genes coding proteins of peripheral myelin. This has important implications for both diagnosis and genetic counselling in this group of conditions. The genetic defect in most cases of familial amyloid polyneuropathy is better known and should be considered especially in late-onset forms.
遗传性神经病是神经病学中最常见的基因决定疾病。周围运动和感觉型是夏科-马里-图斯病。现在已知许多脱髓鞘型的潜在基因缺陷。多项研究已确定编码周围神经髓鞘蛋白的基因突变。这对于这组疾病的诊断和遗传咨询都具有重要意义。家族性淀粉样多神经病大多数病例中的基因缺陷更为人所知，尤其在晚发型病例中应予以考虑。
