Maertens P
Department of Neurology, University of South Alabama Medical Center, Mobile 36617, USA.
Semin Pediatr Neurol. 1996 Dec;3(4):279-97. doi: 10.1016/s1071-9091(96)80032-5.
Although no single neurological manifestation is specific of mitochondrial encephalopathies, several neurological syndromes are clearly suggestive of the diagnosis. Muscle biopsy for histochemicals, biochemical, and mitochondrial DNA studies is frequently necessary to establish diagnosis of mitochondrial encephalopathy presenting with such neurological syndromes. Mitochondrial encephalopathies most frequently result from nuclear gene defects and biochemical studies are frequently helpful in reaching a specific diagnosis. Various therapeutic interventions are beneficial in selected cases.
虽然没有单一的神经学表现可特异性诊断线粒体脑病，但有几种神经综合征明显提示该诊断。对于出现此类神经综合征的线粒体脑病患者，常需进行肌肉活检，以进行组织化学、生化及线粒体DNA研究来确诊。线粒体脑病最常见的病因是核基因缺陷，生化研究通常有助于做出明确诊断。在某些特定病例中，各种治疗干预措施是有益的。
