Danube University Krems, Krems and Krankenanstalt Rudolfstiftung, Vienna, Austria.
Acta Neurol Scand. 2012 Jul;126(1):1-11. doi: 10.1111/j.1600-0404.2012.01649.x. Epub 2012 Feb 15.
Among the various central nervous system (CNS) manifestations of mitochondrial disorders (MIDs), cognitive impairment is increasingly recognized and diagnosed (mitochondrial cognitive dysfunction). Aim of the review was to summarize recent findings concerning the aetiology, pathogenesis, diagnosis and treatment of cognitive decline in MIDs. Among syndromic MIDs due to mitochondrial DNA (mtDNA) mutations, cognitive impairment occurs in patients with mitochondrial encephalopathy, lactic acidosis and stroke-like episodes syndrome, myoclonus epilepsy with ragged-red fibres syndrome, mitochondrial chronic progressive external ophthalmoplegia, Kearns-Sayre syndrome, neuropathy, ataxia and retinitis pigmentosa syndrome and maternally inherited diabetes and deafness. Among syndromic MIDs due to nuclear DNA (nDNA) mutations, cognitive decline has been reported in myo-neuro-gastro-intestinal encephalopathy, mitochondrial recessive ataxia syndrome, spinocerebellar ataxia with encephalopathy, Mohr-Tranebjaerg syndrome, leuko-encephalopathy; brain and spinal cord involvement and lactic acidosis, CMT2, Wolfram syndrome, Wolf-Hirschhorn syndrome and Leigh syndrome. In addition to syndromic MIDs, a large number of non-syndromic MIDs due to mtDNA as well as nDNA mutations have been reported, which present with cognitive impairment as the sole or one among several other CNS manifestations of a MID. Delineation of mitochondrial cognitive impairment from other types of cognitive impairment is essential to guide the optimal management of these patients. Treatment of mitochondrial cognitive impairment is largely limited to symptomatic and supportive measures. Cognitive impairment may be a CNS manifestation of syndromic as well as non-syndromic MIDs. Correct diagnosis of mitochondrial cognitive impairment is a prerequisite for the optimal management of these patients.
在各种线粒体疾病（MIDs）的中枢神经系统（CNS）表现中，认知障碍越来越受到关注和诊断（线粒体认知功能障碍）。本综述的目的是总结有关 MIDs 认知能力下降的病因、发病机制、诊断和治疗的最新发现。在由于线粒体 DNA（mtDNA）突变引起的综合征性 MIDs 中，线粒体脑肌病、乳酸酸中毒和卒中样发作综合征、肌阵挛癫痫伴破碎红纤维综合征、线粒体慢性进行性眼外肌麻痹、Kearns-Sayre 综合征、神经病、共济失调和视网膜色素变性综合征以及母系遗传性糖尿病和耳聋患者中会出现认知障碍。在由于核 DNA（nDNA）突变引起的综合征性 MIDs 中，肌病-神经-胃肠-脑病、线粒体隐性共济失调综合征、脊髓小脑共济失调伴脑病、Mohr-Tranebjærg 综合征、脑白质病；脑和脊髓受累和乳酸酸中毒、CMT2、Wolfram 综合征、Wolf-Hirschhorn 综合征和 Leigh 综合征患者也会出现认知能力下降。除了综合征性 MIDs 外，还报道了大量由于 mtDNA 以及 nDNA 突变引起的非综合征性 MIDs，这些 MIDs 以认知障碍为唯一或多种 MIDs 的中枢神经系统表现之一。将线粒体认知障碍与其他类型的认知障碍区分开来对于指导这些患者的最佳管理至关重要。线粒体认知障碍的治疗主要限于对症和支持措施。认知障碍可能是综合征性和非综合征性 MIDs 的中枢神经系统表现之一。正确诊断线粒体认知障碍是这些患者最佳管理的前提。
