Hanna M G, Bhatia K P
Neurogenetics Section, University Department of Clinical Neurology, London, UK.
Curr Opin Neurol. 1997 Aug;10(4):351-6. doi: 10.1097/00019052-199708000-00012.
Primary defects of mitochondrial DNA leading to respiratory chain dysfunction have been described in association with dystonia, chorea and parkinsonism. Myoclonus remains the commonest movement disorder associated with such defects. The genetic basis of Leigh's syndrome, which is frequently associated with movement disorders, may be mitochondrial or nuclear. Respiratory chain dysfunction has been identified in Huntington's disease in addition to Parkinson's disease, but the cause and relationship of this dysfunction to the pathogenesis of these common disorders is not yet determined.
导致呼吸链功能障碍的线粒体DNA原发性缺陷已被描述与肌张力障碍、舞蹈症和帕金森症相关。肌阵挛仍然是与此类缺陷相关的最常见运动障碍。常与运动障碍相关的 Leigh 综合征的遗传基础可能是线粒体或核基因的。除帕金森病外，亨廷顿病中也已发现呼吸链功能障碍，但这种功能障碍的原因及其与这些常见疾病发病机制的关系尚未确定。
