Rivaud-Pechoux S, Dürr A, Gaymard B, Cancel G, Ploner C J, Agid Y, Brice A, Pierrot-Deseilligny C
INSERM U289 and Fédération de Neurologie, Paris, France.
Ann Neurol. 1998 Mar;43(3):297-302. doi: 10.1002/ana.410430306.
We compared horizontal eye movements (visually guided saccades, antisaccades, and smooth pursuit) in control subjects (n = 14) and patients with three forms of autosomal dominant cerebellar ataxias type I: spinocerebellar ataxias 1 and 2 (SCA1, n = 11; SCA2, n = 10) and SCA3/Machado-Joseph disease (MJD) (n = 16). In SCA1, saccade amplitude was significantly increased, resulting in hypermetria. The smooth pursuit gain was decreased. In SCA2, saccade velocity was markedly decreased. The percentage of errors in antisaccades was greatly increased and was significantly correlated with age at disease onset. In addition, a correlation between smooth pursuit gain and the number of trinucleotide repeats was found. In SCA3, gaze-evoked nystagmus was often present as was saccade hypometria and smooth pursuit gain was markedly decreased. Three major criteria, saccade amplitude, saccade velocity, and presence of gaze-evoked nystagmus, permitted the correct assignment of 90% of the SCA1, 90% of the SCA2, and 93% of the patients with SCA3 to their genetically confirmed patient group and, therefore, may help orient diagnoses of SCA1, SCA2, and SCA3 at early clinical stages of the diseases.
我们比较了对照组（n = 14）以及患有三种常染色体显性遗传性小脑共济失调I型疾病的患者的水平眼动（视觉引导性扫视、反扫视和平稳跟踪）情况，这三种疾病分别是脊髓小脑共济失调1型和2型（SCA1，n = 11；SCA2，n = 10）以及SCA3/马查多-约瑟夫病（MJD）（n = 16）。在SCA1中，扫视幅度显著增加，导致辨距过度。平稳跟踪增益降低。在SCA2中，扫视速度明显降低。反扫视中的错误百分比大幅增加，且与疾病发病年龄显著相关。此外，还发现平稳跟踪增益与三核苷酸重复次数之间存在相关性。在SCA3中，常出现凝视性眼震，同时存在扫视不足，平稳跟踪增益明显降低。三个主要标准，即扫视幅度、扫视速度和凝视性眼震的存在情况，能够将90%的SCA1患者、90%的SCA2患者以及93%的SCA3患者正确归类到经基因确认的患者组中，因此，这可能有助于在疾病的早期临床阶段对SCA1、SCA2和SCA3进行诊断定位。
