Haas R H, Zolkipli Z
Department of Neurosciences, University of California San Diego, La Jolla, California.
Semin Neurol. 2014 Jul;34(3):321-40. doi: 10.1055/s-0034-1386770. Epub 2014 Sep 5.
Mitochondrial diseases are multiorgan system disorders and the brain is the most commonly affected organ. The high-energy requirement of the brain leaves it vulnerable to energy failure. All components of the neuraxis including muscle, the neuromuscular junction, peripheral nerve, spinal cord, and brain can be affected. Genetic mitochondrial disease can be caused by nuclear gene defects and mitochondrial DNA defects. Mitochondrial medicine is rapidly expanding as exome and mtDNA sequencing is identifying new gene defects on a daily basis. This review will focus on primary genetic mitochondrial diseases that impair energy production and affect the nervous system, pathophysiology of disease, classical phenotypes, diagnosis, and treatment.
线粒体疾病是多器官系统疾病，大脑是最常受影响的器官。大脑对能量的高需求使其易受能量衰竭的影响。神经轴的所有组成部分，包括肌肉、神经肌肉接头、外周神经、脊髓和大脑都可能受到影响。遗传性线粒体疾病可由核基因缺陷和线粒体DNA缺陷引起。随着外显子组和线粒体DNA测序每天都在发现新的基因缺陷，线粒体医学正在迅速发展。本综述将重点关注损害能量产生并影响神经系统的原发性遗传性线粒体疾病、疾病的病理生理学、经典表型、诊断和治疗。
