First Department of Neurology, Medical School, Aeginition Hospital, National and Kapodistrian University of Athens, Athens, Greece.
Biomedical Imaging Laboratory, Sorbonne University, National Center for Scientific Research, National Institute of Health and Medical Research, Paris, France.
Cogn Behav Neurol. 2021 Mar 3;34(1):1-10. doi: 10.1097/WNN.0000000000000263.
Myotonic dystrophies (DMs) are hereditary, multisystem, slowly progressive myopathies. One of the systems they affect is the CNS. In contrast to the well-established cognitive profile of myotonic dystrophy type 1 (DM1), only a few studies have investigated cognitive dysfunction in individuals with myotonic dystrophy type 2 (DM2), and their findings have been inconsistent. To identify the most commonly affected cognitive domains in individuals with DM2, we performed a formal comprehensive review of published DM2 studies. Using the terms "myotonic dystrophy type 2" AND "cognitive deficits," "cognitive," "cognition," "neuropsychological," "neurocognitive," and "neurobehavioral" in all fields, we conducted an advanced search on PubMed. We read and evaluated all of the available original research articles (13) and one case study, 14 in total, and included them in our review. Most of the research studies of DM2 reported primary cognitive deficits in executive functions (dysexecutive syndrome), memory (short-term nonverbal, verbal episodic memory), visuospatial/constructive-motor functions, and attention and processing speed; language was rarely reported to be affected. Based on the few neuroimaging and/or multimodal DM2 studies we could find, the cognitive profile of DM2 is associated with brain abnormalities in several secondary and high-order cortical and subcortical regions and associative white matter tracts. The limited sample size of individuals with DM2 was the most prominent limitation of these studies. The multifaceted profile of cognitive deficits found in individuals with DM2 highlights the need for routine neuropsychological assessment at both baseline and follow-up, which could unveil these individuals' cognitive strengths and deficits.
肌强直性营养不良（DMs）是一种遗传性、多系统、进行性缓慢的肌病。它们影响的系统之一是中枢神经系统（CNS）。与 1 型肌强直性营养不良（DM1）明确的认知特征不同，只有少数研究调查了 2 型肌强直性营养不良（DM2）个体的认知功能障碍，而且它们的研究结果不一致。为了确定 DM2 个体中最常见的受影响认知领域，我们对已发表的 DM2 研究进行了正式的综合综述。使用“肌强直性营养不良 2 型”和“认知缺陷”、“认知”、“认知”、“神经心理学”、“神经认知”和“神经行为”等术语，在所有字段中进行高级搜索PubMed。我们阅读并评估了所有可用的原始研究文章（13 篇）和 1 篇案例研究，共 14 篇，将其纳入我们的综述。大多数 DM2 研究报告了执行功能（执行功能障碍综合征）、记忆（短期非言语、言语情景记忆）、视空间/建构运动功能以及注意力和处理速度方面的主要认知缺陷；很少有报道称语言受到影响。根据我们能够找到的少数神经影像学和/或多模态 DM2 研究，DM2 的认知特征与大脑几个次级和高级皮质和皮质下区域以及相关白质束的异常有关。DM2 个体的样本量有限是这些研究中最突出的局限性。DM2 个体中发现的认知缺陷的多方面特征突出表明，需要在基线和随访时进行常规神经心理学评估，这可以揭示这些个体的认知优势和缺陷。
