关键词: LRRK2 Parkinson’s disease antisaccade early diagnosis eye-tracking microsaccade oculomotor premotor

Mesh : Humans Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 / genetics Parkinson Disease / physiopathology genetics complications diagnosis Female Male Middle Aged Aged Ocular Motility Disorders / etiology physiopathology genetics diagnosis Saccades / physiology Heterozygote Adult

来  源:   DOI:10.3233/JPD-230416   PDF(Pubmed)

Abstract:
UNASSIGNED: Video-oculography constitutes a highly-sensitive method of characterizing ocular movements, which could detect subtle premotor changes and contribute to the early diagnosis of Parkinson\'s disease (PD).
UNASSIGNED: To investigate potential oculomotor differences between idiopathic PD (iPD) and PD associated with the G2019S variant of LRRK2 (L2PD), as well as to evaluate oculomotor function in asymptomatic carriers of the G2019S variant of LRRK2.
UNASSIGNED: The study enrolled 129 subjects: 30 PD (16 iPD, 14 L2PD), 23 asymptomatic carriers, 13 non-carrier relatives of L2PD patients, and 63 unrelated HCs. The video-oculographic evaluation included fixation, prosaccade, antisaccade, and memory saccade tests.
UNASSIGNED: We did not find significant differences between iPD and L2PD. Compared to controls, PD patients displayed widespread oculomotor deficits including larger microsaccades, hypometric vertical prosaccades, increased latencies in all tests, and lower percentages of successful antisaccades and memory saccades. Non-carrier relatives showed oculomotor changes with parkinsonian features, such as fixation instability and hypometric vertical saccades. Asymptomatic carriers shared multiple similarities with PD, including signs of unstable fixation and hypometric vertical prosaccades; however, they were able to reach percentages of successful antisaccade and memory saccades similar to controls, although at the expense of longer latencies. Classification accuracy of significant oculomotor parameters to differentiate asymptomatic carriers from HCs ranged from 0.68 to 0.74, with BCEA, a marker of global fixation instability, being the parameter with the greatest classification accuracy.
UNASSIGNED: iPD and LRRK2-G2019S PD patients do not seem to display a differential oculomotor profile. Several oculomotor changes in asymptomatic carriers of LRRK2 mutations could be considered premotor biomarkers.
摘要:
视频眼图构成了一种高度敏感的表征眼球运动的方法,它可以检测到细微的运动前变化,并有助于帕金森病(PD)的早期诊断。
为了研究特发性PD(iPD)和与LRRK2(L2PD)的G2019S变体相关的PD之间的潜在动眼差异,以及评估LRRK2的G2019S变体的无症状携带者的动眼功能。
该研究招募了129名受试者:30名PD(16名iPD,14L2PD),23名无症状携带者,L2PD患者的13名非携带者亲属,和63个无关的HCs。视频眼图评估包括固定,假肢,反扫视,和记忆扫视测试。
我们没有发现iPD和L2PD之间的显着差异。与对照组相比,PD患者表现出广泛的动眼缺陷,包括较大的微跳,高度垂直假肢,所有测试中的延迟增加,成功的反扫视和记忆扫视的百分比较低。非携带者亲属表现出具有帕金森病特征的动眼变化,如固定不稳定和高垂直扫视。无症状携带者与PD有许多相似之处,包括不稳定的固定和高度垂直的假肢的迹象;然而,他们能够达到与对照组相似的成功反扫视和记忆扫视的百分比,尽管以更长的延迟为代价。用BCEA区分无症状携带者和HCs的显著动眼参数的分类准确率范围为0.68~0.74,整体固定不稳定的标志,是分类精度最高的参数。
iPD和LRRK2-G2019SPD患者似乎没有表现出不同的动眼特征。LRRK2突变的无症状携带者的几种动眼变化可以被认为是运动前生物标志物。
公众号