期刊
EUROPEAN JOURNAL OF NEUROLOGY
卷 18, 期 1, 页码 28-38出版社
WILEY-BLACKWELL PUBLISHING, INC
DOI: 10.1111/j.1468-1331.2010.03086.x
关键词
brain; cerebrum; encephalomyopathy; mitochondrial cytopathy; mitochondriopathy; multi-system disease; oxidative phosphorylation; respiratory chain; spinal cord
Central nervous system (CNS) manifestations of mitochondrial disorders (MIDs) are accessible to therapy. Therapy of CNS abnormalities may be categorized as acting on the pathogenic cascade or on the genetic level, which is experimental. Treatment acting on the pathogenic cascade may be classified as non-specific, including antioxidants, electron donors/acceptors, lactate-lowering agents, alternative energy providers, cofactors, avoidance of mitochondrion-toxic drugs, and physiotherapy, or as specific, including drugs against epilepsy, movement disorders, migraine, spasticity, psychiatric abnormalities, hypopituitarism, or bulbar manifestations, ketogenic diet, deep brain stimulation, or artificial ventilation. Stroke-like episodes need to be delineated from ischaemic stroke and require special management. Potentially, mitochondrion-toxic drugs and drug cocktails need to be avoided, seizures should be consequently treated even with mitochondrion-toxic drugs if necessary, and as few drugs as possible should be given. Effective treatment acting on the pathogenic cascade may increase the quality of life and outcome in patients with MID and may prevent a therapeutic nihilism occasionally upcoming with MIDs.
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