Vallat J-M, Goizet C, Tazir M, Couratier P, Magy L, Mathis S
Service de neurologie, centre de référence « neuropathies périphériques rares », CHU Dupuytren, 2, avenue Martin-Luther-King, 87042 Limoges, France.
Service de génétique médicale, CHU Pellegrin, laboratoire MRGM, Inserm U1211, université de Bordeaux, place Amélie-Raba-Léon, 33076 Bordeaux, France.
Rev Neurol (Paris). 2016 Jun-Jul;172(6-7):339-49. doi: 10.1016/j.neurol.2016.04.005. Epub 2016 May 27.
Neurodegenerative disorders represent a wide group of diseases affecting the central and/or peripheral nervous system. Many of these disorders were described in the 19th century, but our genetic knowledge of them is recent (over the past 25 years). However, the continual discovery of disease-causing gene mutations has led to difficulties in the classification of these diseases. For this reason, our present proposals for updating and simplifying the classification of some of these conditions (Charcot-Marie-Tooth diseases, distal hereditary motor neuropathies, hereditary sensory and autonomic neuropathies, hereditary spastic ataxias, hereditary spastic paraplegias and hereditary spastic ataxias) are expounded here.
神经退行性疾病是一大类影响中枢和/或周围神经系统的疾病。其中许多疾病在19世纪就有描述，但我们对它们的遗传学认识却是最近（过去25年）才有的。然而，致病基因突变的不断发现给这些疾病的分类带来了困难。因此，本文阐述了我们目前对其中一些疾病（夏科-马里-图思病、远端遗传性运动神经病、遗传性感觉和自主神经病、遗传性痉挛性共济失调、遗传性痉挛性截瘫和遗传性痉挛性共济失调）进行更新和简化分类的建议。
