Bürk K, Globas C, Bösch S, Gräber S, Abele M, Brice A, Dichgans J, Daum I, Klockgether T
Department of Neurology, University of Tübingen, Germany.
Brain. 1999 Apr;122 ( Pt 4):769-77. doi: 10.1093/brain/122.4.769.
This is one of the first studies assessing the pattern of cognitive impairment in spinocerebellar ataxia 2 (SCA2). Cognitive function was studied in 17 patients with genetically confirmed SCA2 and 15 age- and IQ- matched controls using a neuropsychological test battery comprising tests for IQ, attention, verbal and visuospatial memory, as well as executive functions. Twenty-five percent of the SCA2 subjects showed evidence of dementia. Even in non-demented SCA2 subjects, there was evidence of verbal memory and executive dysfunction. Tests of visuospatial memory and attention were not significantly impaired in the non-demented group compared with controls. There was no relationship between test performance and motor disability, repeat length or age of onset, while disease duration was shown to be inversely correlated with two tests reflecting the progression of cognitive deficits during the course of the disease. Intellectual impairment should therefore not be interpreted as a secondary effect of progressive motor disability, but represents an important and independent part of the SCA2 phenotype.
这是首批评估脊髓小脑共济失调2型（SCA2）认知障碍模式的研究之一。使用一套神经心理测试组合对17例基因确诊的SCA2患者和15例年龄及智商匹配的对照者的认知功能进行了研究，该测试组合包括智商、注意力、言语和视觉空间记忆以及执行功能测试。25%的SCA2受试者有痴呆证据。即使在非痴呆的SCA2受试者中，也存在言语记忆和执行功能障碍的证据。与对照组相比，非痴呆组的视觉空间记忆和注意力测试未受到显著损害。测试表现与运动残疾、重复长度或发病年龄之间没有关系，而病程显示与反映疾病过程中认知缺陷进展的两项测试呈负相关。因此，智力损害不应被解释为进行性运动残疾的继发效应，而是SCA2表型的一个重要且独立的部分。
