Peric Stojan, Rakocevic Stojanovic Vidosava, Mandic Stojmenovic Gorana, Ilic Vera, Kovacevic Masa, Parojcic Aleksandra, Pesovic Jovan, Mijajlovic Milija, Savic-Pavicevic Dusanka, Meola Giovanni
Neurology Clinic, Clinical Center of Serbia, School of Medicine, University of Belgrade, 6, Dr Subotica Street, Belgrade, 11000, Serbia.
Faculty of Biology, Center for Human Molecular Genetics, University of Belgrade, Belgrade, Serbia.
Neurol Sci. 2017 Mar;38(3):415-423. doi: 10.1007/s10072-016-2778-4. Epub 2016 Nov 28.
Neuropsychological examinations in myotonic dystrophy (DM) patients show a great variability of results from a condition of intellectual disability to the subtle cognitive impairments. It is unclear if different clusters of neuropsychological deficits appear in different phenotypes of DM, or if there are patients with no cognitive deficit at all. The aim of this study is to assess cognitive impairments among patients with different phenotypes of DM type 1 (DM1) and type 2 (DM2), and to potentially define cognitive clusters in these disorders. Study comprised 101 DM1 and 46 DM2 adult patients who were genetically confirmed. Patients underwent analysis of five cognitive domains (visuospatial, executive, attention, memory and language). Virtually all DM1 patients had cognitive defect with approximately 2-3 cognitive domains affected. On the other hand, one-third of DM2 patients had completely normal neuropsychological findings, and in other two-thirds approximately 1-2 domains were affected. Cluster analysis showed that in both diseases visuospatial and executive dysfunctions seemed to be the main cognitive defects, while memory and language impairments appeared in more severe phenotypes. Our results showed that a single form of DM1 or DM2 may consist of several cognitive clusters. Understanding of cognitive impairments in DM is very important to follow positive and side effects in ongoing and future clinical trials.
强直性肌营养不良（DM）患者的神经心理学检查结果差异很大，从智力残疾到轻微认知障碍都有。目前尚不清楚不同的神经心理学缺陷群是否出现在DM的不同表型中，或者是否存在完全没有认知缺陷的患者。本研究的目的是评估1型（DM1）和2型（DM2）强直性肌营养不良不同表型患者的认知障碍，并可能确定这些疾病中的认知集群。该研究纳入了101例经基因确诊的DM1成年患者和46例DM2成年患者。患者接受了五个认知领域（视觉空间、执行功能、注意力、记忆和语言）的分析。几乎所有DM1患者都有认知缺陷，约2 - 3个认知领域受到影响。另一方面，三分之一的DM2患者神经心理学检查结果完全正常，另外三分之二的患者约1 - 2个领域受到影响。聚类分析表明，在这两种疾病中，视觉空间和执行功能障碍似乎是主要的认知缺陷，而记忆和语言障碍出现在更严重的表型中。我们的结果表明，单一形式的DM1或DM2可能由几个认知集群组成。了解DM中的认知障碍对于跟踪正在进行和未来临床试验中的积极和副作用非常重要。
