Torrens L, Burns E, Stone J, Graham C, Wright H, Summers D, Sellar R, Porteous M, Warner J, Zeman A
The Robert Fergusson Unit, Royal Edinburgh Hospital, Edinburgh, UK.
Acta Neurol Scand. 2008 Jan;117(1):41-8. doi: 10.1111/j.1600-0404.2007.00904.x.
The objectives of this study were to: (i) establish whether the spinocerebellar ataxia type 8 (SCA 8) expansion is associated with ataxia in Scotland; (ii) test the hypothesis that SCA 8 is associated with neuropsychological impairment; and (iii) review neuroradiological findings in SCA 8.
The methods included: (i) measurement of SCA 8 expansion frequencies in ataxic patients and healthy controls; (ii) comprehensive neuropsychological assessment of patients with SCA 8 and matched controls, neuropsychiatric interview; and (iii) comparison of patient and matched control magnetic resonance imaging (MRI) scans.
(i) 10/694 (1.4%) unrelated individuals with ataxia had combined CTA/CTG repeat expansions >100 compared to 1/1190 (0.08%) healthy controls (P < 0.0005); (ii) neuropsychological assessment revealed a dysexecutive syndrome among SCA 8 patients, not readily explained by motor or mood disturbance; neuropsychiatric symptoms occurred commonly; (iii) cerebellar atrophy was the only salient MRI abnormality in the patient group.
The SCA 8 expansion is associated with ataxia in Scotland. The disorder is associated with a dysexecutive syndrome.
本研究的目的是：（i）确定8型脊髓小脑共济失调（SCA 8）扩增在苏格兰是否与共济失调相关；（ii）检验SCA 8与神经心理损害相关的假设；以及（iii）回顾SCA 8的神经影像学发现。
方法包括：（i）测量共济失调患者和健康对照中SCA 8扩增频率；（ii）对SCA 8患者和匹配对照进行全面神经心理评估、神经精神访谈；以及（iii）比较患者和匹配对照的磁共振成像（MRI）扫描。
（i）694名无关共济失调个体中有10名（1.4%）的CTA/CTG重复序列联合扩增>100，而健康对照中为1/1190（0.08%）（P<0.0005）；（ii）神经心理评估显示SCA 8患者存在执行功能障碍综合征，运动或情绪障碍难以解释该现象；神经精神症状常见；（iii）小脑萎缩是患者组唯一显著的MRI异常。
SCA 8扩增在苏格兰与共济失调相关。该疾病与执行功能障碍综合征相关。
