随着测序技术的发展,在过去的二十年中,已经发现了40多种重复扩张疾病(RED)。此外,这些疾病的临床特征显示出一些共性,和神经系统,尤其是认知功能部分受到这些疾病的影响。然而,不同疾病中受损的特定认知域不一致.这里,我们调查了有关以下表现为认知功能障碍的疾病的认知后果的文献,并总结了致病基因,流行病学,以及受这些疾病影响的不同领域。我们发现,在神经元核内包涵体病(NIID)的认知域是广泛的,包括执行功能,记忆,信息处理速度,注意,视觉空间功能,和语言。C9ORF72额颞叶痴呆(FTD)患者表现出执行功能受损,记忆,语言,和视觉空间功能。而在亨廷顿病(HD),执行功能,记忆,信息处理速度受到影响,在脆性X相关震颤/共济失调综合征(FXTAS)中,执行功能,记忆,信息处理速度,注意力受损。此外,脊髓小脑共济失调在几乎所有的认知领域都表现出广泛的损害,除了相对完整的语言能力。其他一些临床数据相对罕见的疾病也表明认知功能障碍,如强直性肌营养不良1型(DM1),进行性肌阵挛性癫痫(PME),Friedreich共济失调(FRDA),亨廷顿病样2(HDL2),和小脑共济失调,神经病,前庭反射综合征(CANVAS)。我们绘制了相关RED的认知功能图景,这可能为通过认知领域和对这些疾病的有效非特异性干预措施进行鉴别诊断提供了一个方面。
With the development of the sequencing technique, more than 40 repeat expansion diseases (REDs) have been identified during the past two decades. Moreover, the clinical features of these diseases show some commonality, and the nervous system, especially the cognitive function was affected in part by these diseases. However, the specific cognitive domains impaired in different diseases were inconsistent. Here, we survey literature on the cognitive consequences of the following disorders presenting cognitive dysfunction and summarizing the pathogenic genes, epidemiology, and different domains affected by these diseases. We found that the cognitive domains affected in neuronal intranuclear inclusion disease (NIID) were widespread including the executive function, memory, information processing speed, attention, visuospatial function, and language. Patients with C9ORF72-frontotemporal dementia (FTD) showed impairment in executive function, memory, language, and visuospatial function. While in Huntington\'s disease (HD), the executive function, memory, and information processing speed were affected, in the fragile X-associated tremor/ataxia syndrome (FXTAS), executive function, memory, information processing speed, and attention were impaired. Moreover, the spinocerebellar ataxias showed broad damage in almost all the cognitive domains except for the relatively intact language ability. Some other diseases with relatively rare clinical data also indicated cognitive dysfunction, such as myotonic dystrophy type 1 (DM1), progressive myoclonus epilepsy (PME), Friedreich ataxia (FRDA), Huntington disease like-2 (HDL2), and cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS). We drew a cognitive function landscape of the related REDs that might provide an aspect for differential diagnosis through cognitive domains and effective non-specific interventions for these diseases.