Garcia Ruiz P, Fontán A, Cenjor C, Ulmer E, Gomez Tortosa E, Sanchez Pernaute R, Rojo A, Garcia de Yébenes J
Servicio de Neurología, Fundación Jiménez Díaz, Madrid.
Nervenarzt. 2001 Jun;72(6):437-40. doi: 10.1007/s001150050775.
Oculomotor abnormalities have long been recognized in Huntington's disease (HD). The precise correlation between them and other clinical findings has not yet been determined. Using videonystagmography, we studied reflexive, visually guided horizontal saccades in 32 patients with genetically confirmed HD: nine female and 23 male patients, including six with young onset HD (YOHD), 19 with adult onset HD (AOD), and seven with late onset HD (LOHD). Huntington's patients exhibited increased saccade latency (P < 0.05), decreased saccade velocity (P < 0.0005), and impaired saccade accuracy (P < 0.01). A significant difference between the different groups of patients could be determined, and YOHD was characterized by normal latency and decreased saccade velocity while LOHD showed increased saccade latency but normal velocity. Furthermore, we found a significant difference between the genetic data (length of CAG-repeats) and saccadic abnormalities, with higher repeat numbers corresponding to shorter latency and decreased velocity, as in YOHD. The study of saccade parameters might be useful as an objective method for testing the effectiveness of future therapies.
动眼神经异常在亨廷顿病(HD)中早已为人所知。它们与其他临床发现之间的确切关联尚未确定。我们使用视频眼震图对32例基因确诊的HD患者进行了研究:9例女性患者和23例男性患者,其中包括6例青少年起病型HD(YOHD)、19例成年起病型HD(AOD)和7例晚发型HD(LOHD)。亨廷顿病患者的扫视潜伏期延长(P < 0.05),扫视速度降低(P < 0.0005),扫视准确性受损(P < 0.01)。不同患者组之间存在显著差异,YOHD的特征是潜伏期正常但扫视速度降低,而LOHD则表现为扫视潜伏期延长但速度正常。此外,我们发现基因数据(CAG重复序列长度)与扫视异常之间存在显著差异,重复次数越多,潜伏期越短且速度越低,如YOHD患者那样。对扫视参数的研究可能作为一种客观方法,用于测试未来治疗的有效性。