Janoutová Jana, Šerý Omar, Hosák Ladislav, Janout Vladimír
Department of Epidemiology and Public Health, Faculty of Medicine, Ostrava University in Ostrava, Ostrava, Czech Republic.
Institute of Animal Physiology and Genetics, Czech Academy of Sciences, Brno, Czech Republic.
Cent Eur J Public Health. 2015 Dec;23(4):365-7. doi: 10.21101/cejph.a4414.
Mild Cognitive Impairment (MCI) may be a precursor of Alzheimer's disease (AD). There is a boundary area between normal aging and dementia. In practice, the term "age related cognitive decline" has been used interchangeably with "normal aging". Alternatively, the term "aging associated cognitive decline" was introduced and defined by a performance on a standardized cognitive scale focused on learning and memory, attention and cognitive speed, language, or visuoconstructional abilities. The term "mild cognitive impairment" was adopted by Petersen in 2004 to describe a period in the course of neurodegenerative disease where cognition is no longer normal relative to age expectations, however, daily functions are not sufficiently disrupted to correlate with the diagnosis of dementia. Most of the literature refers to the amnestic form of MCI, which is likely a precursor of AD. The rate of conversion from amnestic form of MCI to AD is estimated to reach 10-15% per year. That is why MCI generated a great deal of research. When considering MCI a precursor of AD, it seems reasonable to study AD genetic markers in the MCI patients. In AD, association studies focus on genetic polymorphisms assumed to have an effect on the expression and modulation function of genes associated with AD pathogenesis (ApoE, APP, presenilin 1, presenilin 2, tau protein), and on polymorphisms related to metabolism of the aforementioned proteins (splicing, degradation). Neuropsychological assesment plays a substantial role in the diagnosis of MCI, especially in the case of identification of different MCI subtypes or typical profiles of cognitive performance in prodromal phases of neurodegenerative diseases. The optimal composition of diet may increase an average age and prevent impairment of cognitive functions at the same time. Despite the progress in early diagnosis of MCI and dementia, further research is needed on differential diagnosis and treatment. In amnestic subtype of MCI some genetic markers may already be present, predicting possible future development of AD. Pointing to the need of secondary prevention, lifestyle modifications and possible early treatment could be implemented.
轻度认知障碍(MCI)可能是阿尔茨海默病(AD)的前驱症状。正常衰老和痴呆之间存在一个临界区域。在实践中,“年龄相关认知衰退”一词与“正常衰老”可互换使用。另外,“衰老相关认知衰退”这一术语是通过在标准化认知量表上的表现来引入和定义的,该量表侧重于学习与记忆、注意力与认知速度、语言或视觉构建能力。2004年彼得森采用了“轻度认知障碍”这一术语来描述神经退行性疾病病程中的一个阶段,在此阶段认知相对于年龄预期已不再正常,然而日常功能并未受到足够干扰以至于无法与痴呆诊断相关联。大多数文献提及的是遗忘型MCI,它很可能是AD的前驱症状。据估计,遗忘型MCI每年转化为AD的比率达10% - 15%。这就是MCI引发大量研究的原因。当将MCI视为AD的前驱症状时,在MCI患者中研究AD遗传标记似乎是合理的。在AD研究中,关联研究聚焦于假定对与AD发病机制相关基因(载脂蛋白E、淀粉样前体蛋白、早老素1、早老素2、tau蛋白)的表达和调节功能有影响的基因多态性,以及与上述蛋白质代谢(剪接、降解)相关的多态性。神经心理学评估在MCI诊断中起着重要作用,尤其是在识别不同MCI亚型或神经退行性疾病前驱期认知表现的典型特征时。饮食的最佳构成可能会提高平均寿命并同时预防认知功能受损。尽管在MCI和痴呆的早期诊断方面取得了进展,但在鉴别诊断和治疗方面仍需进一步研究。在遗忘型MCI亚型中可能已经存在一些遗传标记,可预测AD未来可能的发展。鉴于二级预防的必要性,可以实施生活方式的改变以及可能的早期治疗。