Chirino-Pérez Amanda, Vaca-Palomares Israel, Torres Diana L, Hernandez-Castillo Carlos R, Diaz Rosalinda, Ramirez-Garcia Gabriel, Fernandez-Ruiz Juan
Neuropsychology Laboratory, Department of Physiology, Faculty of Medicine, National Autonomous University of Mexico, Mexico City, Mexico.
Cognitive and Behavioral Sciences, Faculty of Psychology, National Autonomous University of Mexico, Mexico City, Mexico.
Mov Disord. 2021 Dec;36(12):2910-2921. doi: 10.1002/mds.28728. Epub 2021 Jul 30.
Spinocerebellar ataxia type 10 is a neurodegenerative disorder caused by the expansion of an ATTCT pentanucleotide repeat. Its clinical features include ataxia and, in some cases, epileptic seizures. There is, however, a dearth of information about its cognitive deficits and the neural bases underpinning them.
The objectives of this study were to characterize the performance of spinocerebellar ataxia type 10 patients in 2 cognitive domains typically affected in spinocerebellar ataxias, memory and executive function, and to correlate the identified cognitive impairments with ataxia severity and cerebral/cerebellar cortical thickness, as quantified by MRI.
Memory and executive function tests were administered to 17 genetically confirmed Mexican spinocerebellar ataxia type 10 patients, and their results were compared with 17 healthy matched volunteers. MRI was performed in 16 patients.
Patients showed deficits in visual and visuospatial short-term memory, reduced storage capacity for verbal memory, and impaired monitoring, planning, and cognitive flexibility, which were ataxia independent. Patients with seizures (n = 9) and without seizures (n = 8) did not differ significantly in cognitive performance. There were significant correlations between short-term visuospatial memory impairment and posterior cerebellar lobe cortical thickness (bilateral lobule VI, IX, and right X). Cognitive flexibility deficiencies correlated with cerebral cortical thickness in the left middle frontal, cingulate, opercular, and temporal gyri. Cerebellar cortical thickness in several bilateral regions was correlated with motor impairment.
Patients with spinocerebellar ataxia type 10 show significant memory and executive dysfunction that can be correlated with deterioration in the posterior lobe of the cerebellum and prefrontal, cingulate, and middle temporal cortices. © 2021 International Parkinson and Movement Disorder Society.
10型脊髓小脑共济失调是一种由ATTCT五核苷酸重复序列扩增引起的神经退行性疾病。其临床特征包括共济失调,在某些情况下还包括癫痫发作。然而,关于其认知缺陷及其潜在神经基础的信息却很匮乏。
本研究的目的是描述10型脊髓小脑共济失调患者在脊髓小脑共济失调中通常受影响的两个认知领域(记忆和执行功能)的表现,并将所发现的认知障碍与共济失调严重程度以及通过MRI量化的脑/小脑皮质厚度相关联。
对17名经基因确诊的墨西哥10型脊髓小脑共济失调患者进行了记忆和执行功能测试,并将其结果与17名健康匹配志愿者进行了比较。16名患者接受了MRI检查。
患者在视觉和视觉空间短期记忆方面存在缺陷,言语记忆的存储能力下降,监测、计划和认知灵活性受损,这些均与共济失调无关。有癫痫发作的患者(n = 9)和无癫痫发作的患者(n = 8)在认知表现上无显著差异。短期视觉空间记忆障碍与小脑后叶皮质厚度(双侧小叶VI、IX和右侧X)之间存在显著相关性。认知灵活性缺陷与左侧额中回、扣带回、岛盖和颞回的脑皮质厚度相关。几个双侧区域的小脑皮质厚度与运动障碍相关。
10型脊髓小脑共济失调患者表现出明显的记忆和执行功能障碍,这与小脑后叶以及前额叶、扣带回和颞中皮质的退化相关。©2021国际帕金森和运动障碍协会。