Qian Shu-Xia, Bao Yu-Feng, Li Xiao-Yan, Dong Yi, Wu Zhi-Ying
Department of Medical Genetics and Center for Rare Diseases, Second Affiliated Hospital, Zhejiang University School of Medicine and Zhejiang Key Laboratory of Rare Diseases for Precision Medicine and Clinical Translation, Hangzhou, China.
Department of Neurology, Second Affiliated Hospital of Jiaxing University, Jiaxing, China.
J Mov Disord. 2025 Jan;18(1):65-76. doi: 10.14802/jmd.24151. Epub 2024 Dec 9.
Huntington's disease (HD) is characterized by motor, cognitive, and neuropsychiatric symptoms. Oculomotor impairments and gait variability have been independently considered as potential markers in HD. However, an integrated analysis of eye movement and gait is lacking. We performed multiple examinations of eye movement and gait variability in HTT mutation carriers, analyzed the consistency between these parameters and clinical severity, and then examined the associations between oculomotor impairments and gait deficits.
We included 7 patients with pre-HD, 30 patients with HD and 30 age-matched controls. We collected demographic data and assessed the Unified Huntington's Disease Rating Scale (UHDRS) score. Examinations, including saccades, smooth pursuit tests, and optokinetic (OPK) tests, were performed to evaluate eye movement function. The parameters of gait include stride length, walking velocity, step deviation, step length, and gait phase.
HD patients have significant impairments in the latency and velocity of saccades, the gain of smooth pursuit, and the gain and slow phase velocities of OPK tests. Only the speed of saccades significantly differed between pre-HD patients and controls. There are significant impairments in stride length, walking velocity, step length, and gait phase in HD patients. The parameters of eye movement and gait variability in HD patients were consistent with the UHDRS scores. There were significant correlations between eye movement and gait parameters.
Our.
show that eye movement and gait are impaired in HD patients and that the speed of saccades is impaired early in pre-HD. Eye movement and gait abnormalities in HD patients are significantly correlated with clinical disease severity.
亨廷顿舞蹈症（HD）的特征为运动、认知和神经精神症状。眼球运动障碍和步态变异性已被分别视为HD的潜在标志物。然而，目前缺乏对眼动和步态的综合分析。我们对HTT突变携带者进行了多项眼动和步态变异性检查，分析了这些参数与临床严重程度之间的一致性，然后研究了眼球运动障碍与步态缺陷之间的关联。
我们纳入了7例症状前HD患者、30例HD患者和30例年龄匹配的对照者。我们收集了人口统计学数据，并评估了统一亨廷顿舞蹈症评定量表（UHDRS）得分。进行了包括扫视、平稳跟踪测试和视动（OPK）测试在内的检查，以评估眼动功能。步态参数包括步幅、步行速度、步幅偏差、步长和步态相位。
HD患者在扫视潜伏期和速度、平稳跟踪增益以及OPK测试的增益和慢相速度方面存在显著损害。只有扫视速度在症状前HD患者和对照者之间存在显著差异。HD患者在步幅、步行速度、步长和步态相位方面存在显著损害。HD患者的眼动和步态变异性参数与UHDRS得分一致。眼动和步态参数之间存在显著相关性。
我们的结果表明，HD患者的眼动和步态受损，且症状前HD患者早期扫视速度即受损。HD患者的眼动和步态异常与临床疾病严重程度显著相关。
