Inomata-Terada Satomi, Fukuda Hideki, Tokushige Shin-Ichi, Matsuda Shun-Ichi, Hamada Masashi, Ugawa Yoshikazu, Tsuji Shoji, Terao Yasuo
Department of Medical Physiology, Faculty of Medicine, Kyorin University, Tokyo, Japan; Department of Neurology, Graduate School of Medicine, University of Tokyo, Japan.
Segawa Memorial Neurological Clinic for Children, Tokyo, Japan.
Clin Neurophysiol. 2023 Oct;154:70-84. doi: 10.1016/j.clinph.2023.07.006. Epub 2023 Jul 31.
To study how the pathophysiology underlying hereditary spinocerebellar degeneration (spinocerebellar ataxia; SCA) with pure cerebellar manifestation evolves with disease progression using saccade recordings.
We recorded visually- (VGS) and memory-guided saccade (MGS) task performance in a homogeneous population of 20 genetically proven SCA patients (12 SCA6 and eight SCA31 patients) and 19 normal controls.
For VGS but not MGS, saccade latency and amplitude were increased and more variable than those in normal subjects, which correlated with cerebellar symptom severity assessed using the International Cooperative Ataxia Rating Scale (ICARS). Parameters with significant correlations with cerebellar symptoms showed an aggravation after disease stage progression (ICARS > 50). The saccade velocity profile exhibited shortened acceleration and prolonged deceleration, which also correlated with disease progression. The main sequence relationship between saccade amplitude and peak velocity as well as saccade inhibitory control were preserved.
The cerebellum may be involved in initiating VGS, which was aggravated acutely during disease stage progression. Dysfunction associated with disease progression occurs mainly in the cerebellum and brainstem interaction but may also eventually involve cortical saccade processing.
Saccade recording can reveal cerebellar pathophysiology underlying SCA with disease progression.
利用扫视记录研究以单纯小脑表现为特征的遗传性脊髓小脑变性（脊髓小脑共济失调；SCA）的病理生理学如何随疾病进展而演变。
我们记录了20例基因确诊的SCA患者（12例SCA6患者和8例SCA31患者）和19名正常对照者在视觉引导扫视（VGS）和记忆引导扫视（MGS）任务中的表现。
对于VGS而非MGS，扫视潜伏期和幅度增加，且比正常受试者更具变异性，这与使用国际协作共济失调评定量表（ICARS）评估的小脑症状严重程度相关。与小脑症状有显著相关性的参数在疾病阶段进展后（ICARS>50）出现加重。扫视速度曲线表现为加速缩短和减速延长，这也与疾病进展相关。扫视幅度与峰值速度之间的主序列关系以及扫视抑制控制得以保留。
小脑可能参与启动VGS，在疾病阶段进展期间急性加重。与疾病进展相关的功能障碍主要发生在小脑与脑干的相互作用中，但最终也可能涉及皮质扫视处理。
扫视记录可揭示疾病进展过程中SCA潜在的小脑病理生理学。
