García Maitane, Rouco-Axpe Idoia, Amayra Imanol, Rodríguez-Antigüedad Alfredo, Catalli Claudio, Cabrera-Zubizarreta Alberto, Rodríguez Alicia Aurora, Pérez Manuel
Neuro-e-Motion Research Team, Faculty of Health Sciences, Department of Psychology, University of Deusto, Bilbao, Spain.
Neurology Service, Cruces University Hospital, BioCruces Health Research Institute, Barakaldo-Bizkaia, Spain.
Arch Clin Neuropsychol. 2022 Jul 19;37(5):904-915. doi: 10.1093/arclin/acac024.
Hereditary ataxias are a heterogeneous group of disorders characterized by degeneration of the cerebellum and its connections. It is known that patients with ataxia can manifest a broad spectrum of motor symptoms; however, current research has emphasized the relevance of cognitive disturbances. The aim of this study is to analyze the presence of cognitive impairment in a heterogeneous cohort of patients with hereditary ataxia (HA). A group of 38 patients with HA of different etiologies and a matched group of 38 healthy controls were recruited and evaluated through a comprehensive battery of neuropsychological tests. The findings show a worse performance in ataxic patients on planning, visuospatial skills, naming, and Theory of Mind tasks, regardless their physical and psychological symptomatology. The influence of clinical status as well as functional ability-related variables on their performance were analyzed, showing that the level of disability and motor disturbances have a significant effect on verbal memory, verbal fluency, and working memory. These findings suggest that patients with HA can manifest cognitive and neuropsychiatric symptoms as part of their clinical features, which demands its inclusion for the diagnosis and management of the disease.
遗传性共济失调是一组异质性疾病，其特征是小脑及其连接部位发生退化。已知共济失调患者可表现出广泛的运动症状；然而，目前的研究强调了认知障碍的相关性。本研究的目的是分析遗传性共济失调（HA）异质性患者队列中认知障碍的存在情况。招募了一组38名病因不同的HA患者和一组匹配的38名健康对照，并通过一系列全面的神经心理学测试进行评估。研究结果表明，无论共济失调患者的身体和心理症状如何，他们在计划、视觉空间技能、命名和心理理论任务方面的表现都较差。分析了临床状态以及与功能能力相关的变量对其表现的影响，结果表明残疾程度和运动障碍对言语记忆、言语流畅性和工作记忆有显著影响。这些发现表明，HA患者可表现出认知和神经精神症状作为其临床特征的一部分，这要求在疾病的诊断和管理中纳入这些症状。
