Spinocerebellar Ataxia Types 1, 2, 3 and 6: the Clinical Spectrum of Ataxia and Morphometric Brainstem and Cerebellar Findings
Spinocerebellar Ataxia Types 1, 2, 3 and 6: the Clinical Spectrum of Ataxia and Morphometric Brainstem and Cerebellar Findings
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DOI：
10.1007/s12311-011-0292-z
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发表时间：
2012-03-01
期刊：
影响因子：
3.5
通讯作者：
Klockgether, Thomas
中科院分区：
文献类型：
--
作者：
Jacobi, Heike;Hauser, Till-Karsten;Klockgether, Thomas
为了评估最常见的脊髓小脑性共济失调（SCA）的共济失调和小脑性眼功能障碍的临床谱，我们分析了EUROSCA自然史研究的基线数据，这是一项多中心队列研究，纳入了526例脊髓小脑性共济失调1型、2型、3型或6型患者。为了量化共济失调症状，我们使用了共济失调评估和评级量表（SARA）。使用非共济失调症状量表（INAS）评估小脑性眼球震颤体征的存在。在一个亚组的患者，其中磁共振图像（MRI），我们相关的MRI形态测量与临床体征的探索性基础上。SARA的姿势和步态（项目1-3），言语（项目4）和肢体运动分项评分（项目5-8）在基因型之间没有差异。SARA项目3（坐），5（手指追逐）和6（鼻-指试验）的评分在亚型之间存在差异，而其余项目的评分没有差异。在SCA 1中，共济失调症状与脑干萎缩相关，在SCA 3中与脑干和小脑萎缩相关。小脑眼球功能障碍在SCA 6中最常见，其次是SCA 3，而这些异常在SCA 1和SCA 2中不太常见。我们的数据表明，SCA 1，SCA 2，SCA 3和SCA 6的前庭小脑，脊髓小脑和桥脑小脑回路功能受损的程度几乎相同，但在不同的解剖水平。SCA 1和SCA 2中小脑眼球功能缺陷的患病率似乎很低，这很可能与这些疾病中的扫视系统缺陷有关。
To assess the clinical spectrum of ataxia and cerebellar oculomotor deficits in the most common spinocerebellar ataxias (SCAs), we analysed the baseline data of the EUROSCA natural history study, a multicentric cohort study of 526 patients with either spinocerebellar ataxia type 1, 2, 3 or 6. To quantify ataxia symptoms, we used the Scale for the Assessment and Rating of Ataxia (SARA). The presence of cerebellar oculomotor signs was assessed using the Inventory of Non-Ataxia Symptoms (INAS). In a subgroup of patients, in which magnetic resonance images (MRIs) were available, we correlated MRI morphometric measures with clinical signs on an exploratory basis. The SARA subscores posture and gait (items 1-3), speech (item 4) and the limb kinetic subscore (items 5-8) did not differ between the genotypes. The scores of SARA item 3 (sitting), 5 (finger chase) and 6 (nose-finger test) differed between the subtypes whereas the scores of the remaining items were not different. In SCA1, ataxia symptoms were correlated with brainstem atrophy and in SCA3 with both brainstem and cerebellar atrophy. Cerebellar oculomotor deficits were most frequent in SCA6 followed by SCA3, whereas these abnormalities were less frequent in SCA1 and SCA2. Our data suggest that vestibulocerebellar, spinocerebellar and pontocerebellar circuits in SCA1, SCA2, SCA3 and SCA6 are functionally impaired to almost the same degree, but at different anatomical levels. The seemingly low prevalence of cerebellar oculomotor deficits in SCA1 and SCA2 is most probably related to the defective saccadic system in these disorders.