Globas C, Bösch S, Zühlke Ch, Daum I, Dichgans J, Bürk K
Department of Neurology, University of Tübingen, Germany.
J Neurol. 2003 Dec;250(12):1482-7. doi: 10.1007/s00415-003-0258-2.
The aim of this study was to assess cognitive function in patients with spinocerebellar ataxia type 6 (SCA6), an autosomal-dominantly inherited disease leading to a progressive cerebellar syndrome. In contrast to other SCA types, the pathological changes are mostly restricted to the cerebellum. Cognitive function was studied in 12 patients with genetically confirmed SCA6 (mean duration of disease: 9.2 +/- 11.6 years) and 12 age- and IQ-matched controls using a test battery comprising tests for IQ, attention, verbal and visuospatial memory, as well as executive function. While none of the SCA6 subjects had features of general intellectual impairment, only mild deficits in single subtests especially in fronto-executive tasks were observed, but without reaching statistical significance. Thus the current findings do not demonstrate severe cognitive dysfunction in SCA6.
本研究的目的是评估6型脊髓小脑共济失调(SCA6)患者的认知功能,这是一种常染色体显性遗传疾病,可导致进行性小脑综合征。与其他类型的SCA不同,其病理变化大多局限于小脑。我们使用一组测试对12例基因确诊的SCA6患者(疾病平均病程:9.2±11.6年)和12例年龄及智商匹配的对照者进行了认知功能研究,这些测试包括智商、注意力、言语和视觉空间记忆以及执行功能测试。虽然没有一名SCA6受试者有一般智力损害的特征,但仅在个别子测试中观察到轻度缺陷,尤其是在前额叶执行任务中,但未达到统计学意义。因此,目前的研究结果并未证明SCA6存在严重的认知功能障碍。