Cognitive and social cognitive functioning in spinocerebellar ataxia - A preliminary characterization
Cognitive and social cognitive functioning in spinocerebellar ataxia - A preliminary characterization
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DOI：
10.1007/s00415-008-0680-6
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发表时间：
2008-03-01
影响因子：
6
通讯作者：
Cipolotti, L.
中科院分区：
文献类型：
--
作者：
Garrard, P.;Martin, N. H.;Cipolotti, L.
脊髓小脑共济失调（SCA）是一种罕见的神经退行性疾病，由不同的基因突变引起。临床上，SCA的特征是进行性共济失调和各种其他特征，包括认知功能障碍。后者与越来越多的证据支持小脑的认知和运动作用是一致的。最近提出的小脑参与社会认知的建议在这些条件下还没有得到广泛的探讨。明确的分子诊断的可用性允许遗传定义的SCA患者亚组，小脑和小脑外受累的不同模式，进行测试比较使用一个共同的电池测试的一般，社会和情感认知。研究方法：9名SCA6患者和6名SCA3患者使用一组全面的神经心理学仪器进行评估，包括记忆，语言，视觉空间技能，计算，注意力和执行功能，情绪处理和心理理论（ToM）。结果两组均无视觉空间加工或计算障碍，但均出现命名和注意困难。在这两种情况下都存在记忆和执行功能的缺陷，尽管在SCA3中更明显。相比之下，两组人在心理理论测试中表现出一贯的糟糕表现，以及社会和情感反应的正常归因。结论小脑在认知和运动活动中起重要作用。域损伤重叠的模式提供了初步的初步证据，表明小脑对记忆和执行功能以及ToM的各个方面都有贡献，而其他域更多地依赖于小脑以外的神经系统。与心理理论相关的研究结果与自闭症小脑参与的可能性有关。
Introduction The spinocerebellar ataxias (SCAs), are rare neurodegenerative disorders caused by distinct genetic mutations. Clinically, the SCAs are characterised by progressive ataxia and a variety of other features, including cognitive dysfunction. The latter is consistent with a growing body of evidence supporting a cognitive as well as motor role for the cerebellum. Recent suggestions of cerebellar involvement in social cognition have not been extensively explored in these conditions. The availability of definitive molecular diagnosis allows genetically defined subgroups of SCA patients, with distinct patterns of cerebellar and extracerebellar involvement, to be tested comparatively using a common battery of tests of general, social and emotional cognition. Methods: Nine patients with SCA6, and 6 with SCA3 were assessed using a comprehensive battery of neuropsychological instruments, encompassing domains of memory, language, visuo-spatial skills, calculation, attention and executive function, emotional processing and theory of mind (ToM). Results There were no deficits in visuo-spatial processing or calculation in either group, while individuals with naming and attentional difficulties were seen in both. Deficits in memory and executive function were present in both conditions, albeit more pronounced in SCA3. By contrast, both groups demonstrated consistently poor performance on ToM tests, and normal attribution of social and emotional responses. Conclusion The data support the hypothesis that the cerebellum is important for cognitive as well as motor activity. The pattern of overlap of domain impairments provides tentative preliminary evidence that there is a cerebellar contribution to aspects of memory and executive function and ToM, and that other domains depend more on neural system outside the cerebellum. The findings relating to ToM are relevant to the possibility of cerebellar involvement in autism.