Experimental Neuropsychology Research Unit, School of Psychology and Psychiatry, Monash University, Clayton, Victoria, Australia.
J Int Neuropsychol Soc. 2011 Jan;17(1):196-200. doi: 10.1017/S1355617710001347. Epub 2010 Nov 17.
Sustained volitional attention and working memory capacity was examined for the first time in people with Friedreich ataxia (FRDA). We administered subtests of the Test of Everyday Attention to 16 individuals with molecularly confirmed FRDA and gender-, age-, and IQ-matched controls. Clinically significant impairment in working memory and sustained volitional attention was evident. Working memory deficits correlated significantly with GAA repeat number on the shorter allele of the FXN gene, and separately, with disease severity, as measured by the Friedreich Ataxia Rating Scale score. Sustained volitional attention was not correlated with disease parameters, suggesting that this impairment may not be related to the disease process in a simple way. The deficits observed may be the result of disruption to corticocerebellar pathways, or directly related to the cortical and/or cerebellar pathology evident in people with FRDA.
我们首次在弗里德里希共济失调（FRDA）患者中检查了持续意志注意力和工作记忆容量。我们对 16 名经分子证实的 FRDA 患者和性别、年龄、智商匹配的对照组进行了日常注意力测验的子测验。明显存在工作记忆和持续意志注意力的临床显著损伤。工作记忆缺陷与 FXN 基因较短等位基因上 GAA 重复数显著相关，分别与疾病严重程度相关，由弗里德里希共济失调评定量表评分测量。持续意志注意力与疾病参数不相关，这表明这种损伤可能与疾病过程没有简单的关系。观察到的缺陷可能是皮质小脑通路中断的结果，或者与 FRDA 患者明显的皮质和/或小脑病理学直接相关。
