U1172-LilNCog-Lille Neuroscience & Cognition, Univ. Lille, Inserm, CHU Lille, 59000, Lille, France.
Department of Neurology, CHU Lille, 59000, Lille, France.
J Neurol. 2024 Jul;271(7):4529-4539. doi: 10.1007/s00415-024-12404-2. Epub 2024 May 6.
Severity and nature of cognitive impairments in Myotonic dystrophy type 1 (DM1) are heterogeneous among studies. We hypothesized that this heterogeneity is explained by different cognitive profiles in DM1, with different clinical, biological and behavioral features.
Adult patients with genetically proven DM1 underwent a clinical, neuropsychological and behavioral assessment. We conducted a k-means clustering analysis on 9 cognitive tests representative of different domains (verbal/non-verbal episodic memory, visuo-constructive abilities, visual gnosis, executive functions, information processing speed).
We included 124 DM1 patients. Mean age was 45.1 ± 13.5 years [19.8-73.2], mean age of onset was 30.4 ± 15.7 years [5-72], and mean CTG triplets' expansion size was 489.7 ± 351.8 [50-1600]. We found 3 cognitive clusters, including, respectively, 84, 29 and 11 patients. The first cluster included patients with more preserved cognitive functions; the second included patients with worse cognitive performances which predominate on executive functions; and the third even more pronounced and diffuse cognitive deficits. Younger patients, with a more recent DM1 clinical onset, higher educational level were more frequently classified in the cluster with more preserved cognitive functions. There were no significant differences between clusters regarding CTG triplets' expansion, neither age at DM1 onset, nor most of behavioral measures.
We found different cognitive profiles in our DM1 population, which seem influenced by age and DM1 duration. Our findings may explain the heterogeneity of studies about cognition in DM1, and suggest a potential neurodegenerative mechanism in DM1 adults.
肌强直性营养不良 1 型（DM1）患者的认知损伤严重程度和性质在各研究间存在差异。我们假设这种异质性可由 DM1 患者不同的认知特征解释，这些特征与不同的临床、生物学和行为特征相关。
经基因证实的成年 DM1 患者接受了临床、神经心理学和行为评估。我们对 9 项认知测试进行了 k-均值聚类分析，这些测试代表了不同的领域（言语/非言语情景记忆、视空间构建能力、视觉认知、执行功能、信息处理速度）。
我们纳入了 124 例 DM1 患者。平均年龄为 45.1±13.5 岁[19.8-73.2]，平均发病年龄为 30.4±15.7 岁[5-72]，平均 CTG 三核苷酸扩展大小为 489.7±351.8[50-1600]。我们发现了 3 个认知聚类，分别包括 84、29 和 11 例患者。第一个聚类包括认知功能保存较好的患者；第二个聚类包括执行功能较差的患者；第三个聚类甚至认知缺陷更明显和广泛。年轻患者、发病年龄较晚、受教育程度较高，更常被归类于认知功能保存较好的聚类。各聚类间 CTG 三核苷酸扩展、DM1 发病年龄和大多数行为测量均无显著差异。
我们在 DM1 患者中发现了不同的认知特征，这些特征似乎受年龄和 DM1 病程的影响。我们的发现可以解释 DM1 认知研究的异质性，并提示 DM1 成人中存在潜在的神经退行性机制。
