Leukodystrophies: recent developments in genetics, molecular biology, pathogenesis and treatment
Leukodystrophies: recent developments in genetics, molecular biology, pathogenesis and treatment
复制标题
DOI：
10.1097/00019052-200106000-00007
复制
发表时间：
2001-06-01
影响因子：
4.8
通讯作者：
Forss-Petter, S
中科院分区：
文献类型：
--
作者：
Berger, J;Moser, HW;Forss-Petter, S
最近开发的遗传和生物化学分析、神经成像技术和创建动物模型的能力的组合应用导致脑白质营养不良研究领域的显著进展。本文主要介绍X连锁肾上腺脑白质营养不良、Alexanders病、Canavans病、异染性脑白质营养不良、球状细胞脑白质营养不良（Krabbes病）和Pelizaeus-Merzbacher病的最新进展，并简要讨论了其他6种罕见遗传性脑白质营养不良的新资料。在脑白质营养不良中，12种现在可以使用非侵入性技术精确诊断，其中9种的分子缺陷已经被确定。通过遗传咨询可以降低发病率。症状前诊断为治疗干预提供了机会。动物模型的研究有助于阐明致病机制，并确定未来治疗可能靶向的途径。Curr Opin Neurol 14：305-312. (C)2001年利平科特威廉姆斯&威尔金斯。
The combined application of recently developed techniques for genetic and biochemical analysis, neuroimaging and the ability to create animal models has led to remarkable advances in the field of leukodystrophy research. The present review focuses on recent developments in X-linked adrenoleukodystrophy, Alexanders disease, Canavans disease, metachromatic leukodystrophy, globoid cell leukodystrophy (Krabbes disease) and Pelizaeus-Merzbacher disease, and briefly discusses new data on six other rare inherited leukodystrophies. Of the leukodystrophies, 12 can now be diagnosed precisely using noninvasive techniques, and the molecular defect has been identified in nine of these. Disease incidence can be reduced through genetic counselling. Presymptomatic diagnosis provides an opportunity for therapeutic intervention. Study of animal models facilitates elucidation of pathogenic mechanisms and identifies pathways that could be targeted by future therapies. Curr Opin Neurol 14:305-312. (C) 2001 Lippincott Williams & Wilkins.