Ng Yi Shiau, Turnbull Doug M
Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK.
J Neurol. 2016 Jan;263(1):179-91. doi: 10.1007/s00415-015-7884-3. Epub 2015 Aug 28.
Mitochondrial disease is one of the most common groups of genetic diseases with a minimum prevalence of greater than 1 in 5000 in adults. Whilst multi-system involvement is often evident, neurological manifestation is the principal presentation in most cases. The multiple clinical phenotypes and the involvement of both the mitochondrial and nuclear genome make mitochondrial disease particularly challenging for the clinician. In this review article we cover mitochondrial genetics and common neurological presentations associated with adult mitochondrial disease. In addition, specific and supportive treatments are discussed.
线粒体疾病是最常见的遗传性疾病群体之一，在成年人中的最低患病率超过五千分之一。虽然多系统受累往往很明显，但在大多数情况下，神经学表现是主要症状。线粒体疾病的多种临床表型以及线粒体和核基因组的受累情况，给临床医生带来了特别大的挑战。在这篇综述文章中，我们涵盖了线粒体遗传学以及与成人线粒体疾病相关的常见神经学表现。此外，还讨论了具体的治疗方法和支持性治疗。
