Pôle femme et enfant, hôpital Estaing, centre de compétence des leucodystrophies et leucoencéphalopathies génétiques de cause rare, centre hospitalier universitaire de Clermont-Ferrand, 1, place Lucie-et-Raymond-Aubrac, 63003 Clermont-Ferrand cedex 1, France.
Rev Neurol (Paris). 2020 Jan-Feb;176(1-2):10-19. doi: 10.1016/j.neurol.2019.04.003. Epub 2019 Jun 4.
Leukodystrophies and genetic leukoencephalopathies are a large group of genetic disorders affecting central nervous system white matter. They can begin at any age, however this study focuses on disorders beginning in childhood and adolescence. We discuss the recent definitions, classifications, and classic syndromes, as well as genetic progress in the field through the identification of new genes and several new genetic syndromes.
脑白质营养不良和遗传性脑白质病是一大类影响中枢神经系统白质的遗传疾病。它们可以在任何年龄发病，但本研究重点关注儿童和青少年期发病的疾病。我们讨论了最近的定义、分类和经典综合征，以及通过鉴定新基因和几种新的遗传综合征在该领域取得的遗传进展。
