Mitochondrial disorders, cognitive impairment and dementia
Mitochondrial disorders, cognitive impairment and dementia
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DOI：
10.1016/j.jns.2009.02.347
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发表时间：
2009-08-15
影响因子：
4.4
通讯作者：
Finsterer, Josef
中科院分区：
文献类型：
--
作者：
Finsterer, Josef
在线粒体疾病，特别是呼吸链疾病（rcd）中，除骨骼肌外，最常受影响的器官是中枢神经系统（CNS）。rcd的中枢神经系统表现包括卒中样发作、癫痫、偏头痛、共济失调、痉挛、运动障碍、精神障碍、认知能力下降，甚至痴呆（线粒体痴呆）。迄今为止，线粒体痴呆已在MELAS、MERRF、LHON、CPEO、KSS、MNGIE、NARP、Leigh综合征和alpers - hutenlocher病中报道。线粒体痴呆不仅由线粒体基因组突变引起，也由核基因突变引起，如POLG、胸苷激酶2或DDP1。线粒体痴呆通常始于特定的认知缺陷，特别是在视觉结构、注意力、抽象或灵活性方面，但没有普遍的智力退化。rcd的认知障碍是通过神经心理学测试、成像研究（如MRI、PET或mr波谱）、csf调查或脑电图来诊断的。线粒体痴呆的治疗依赖于对症治疗。只有单个患者从胆碱酯酶抑制剂或美金刚、抗氧化剂、维生素、辅酶q或其他替代品中获益。总之，线粒体痴呆是痴呆的一个重要鉴别，在多系统疾病患者中应予以考虑。(C) 2009 Elsevier B.V.版权所有
The organ most frequently affected in mitochondrial disorders, particularly respiratory chain diseases (RCDs), in addition to the skeletal muscle, is the central nervous system (CNS). CNS manifestations of RCDs comprise stroke-like episodes, epilepsy, migraine, ataxia, spasticity, movement disorders, psychiatric disorders, cognitive decline, or even dementia (mitochondrial dementia). So far mitochondrial dementia has been reported in MELAS, MERRF, LHON, CPEO, KSS, MNGIE, NARP, Leigh syndrome, and Alpers-Huttenlocher disease. Mitochondrial dementia not only results from mutations in the mitochondrial genome but also from mutations in nuclear genes, such as POLG, thymidine kinase 2, or DDP1. Often mitochondrial dementia starts with specific cognitive deficits, particularly in visual construction, attention, abstraction, or flexibility but without a general intellectual deterioration. Cognitive impairment in RCDs is diagnosed upon neuropsychological testing, imaging studies, such as MRI, PET, or MR-spectroscopy, CSF-investigations, or electroencephalography. Therapy of mitochondrial dementia relies on symptomatic measures. Only single patients profit from cholinesterase inhibitors or memantine, antioxidants, vitamins, coenzyme-Q, or other substitutes. Overall, mitochondrial dementia is an important differential of dementias and should be considered in patients with multi-system disease. (C) 2009 Elsevier B.V. All rights reserved.