Newcastle University, Newcastle upon Tyne, UK.
NIHR Newcastle BRC, NuTH-NHS Foundation Trust, Newcastle upon Tyne, UK.
Eur J Neurol. 2020 Jan;27(1):3-17. doi: 10.1111/ene.14068. Epub 2019 Oct 22.
The profile and trajectory of cognitive impairment in mitochondrial disease are poorly defined. This systematic review sought to evaluate the current literature on cognition in mitochondrial disease, and to determine future research directions. A systematic review was conducted, employing PubMed, Medline, Psycinfo, Embase and Web of Science, and 360-degree citation methods. English language papers on adult patients were included. The literature search yielded 2421 articles, of which 167 met inclusion criteria. Case reports and reviews of medical reports of patients yielded broad diagnoses of dementia, cognitive impairment and cognitive decline. In contrast, systematic investigations of cognitive functioning using detailed cognitive batteries identified focal cognitive rather than global deficits. Results were variable, but included visuospatial functioning, memory, attention, processing speed and executive functions. Conclusions from studies have been hampered by small sample sizes, variation in genotype and the breadth and depth of assessments undertaken. Comprehensive cognitive research with concurrent functional neuroimaging and physical correlates of mitochondrial disease in larger samples of well-characterized patients may discern the aetiology and progression of cognitive deficits. These data provide insights into the pattern and trajectory of cognitive impairments, which are invaluable for clinical monitoring, health planning and clinical trial readiness.
线粒体疾病患者的认知障碍特征和轨迹尚未明确。本系统评价旨在评估线粒体疾病认知领域的现有文献，并确定未来的研究方向。采用 PubMed、Medline、Psycinfo、Embase 和 Web of Science 以及 360 度引文方法进行了系统评价。纳入了关于成年患者的英文论文。文献检索产生了 2421 篇文章，其中 167 篇符合纳入标准。病例报告和对患者医疗报告的综述得出了广泛的痴呆、认知障碍和认知能力下降的诊断。相比之下，使用详细认知测试的认知功能系统调查确定了局灶性认知而非全面性认知缺陷。结果各不相同，但包括视觉空间功能、记忆、注意力、处理速度和执行功能。由于样本量小、基因型变异以及所进行的评估的广度和深度，研究的结论受到了阻碍。在更大的、特征明确的患者样本中进行综合认知研究，并同时进行功能神经影像学和线粒体疾病的身体相关性研究，可能有助于识别认知缺陷的病因和进展。这些数据为认知障碍的模式和轨迹提供了深入了解，对于临床监测、健康规划和临床试验准备具有重要价值。
