弗里德里希共济失调症的眼球运动和前庭功能障碍--定量测量的系统回顾和荟萃分析

E. Sohns, D. J. Szmulewicz, A. A. Tarnutzer
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引用次数: 0

摘要

疾病特异性眼球运动评估在遗传性小脑共济失调的早期诊断中起着至关重要的作用。虽然已有多项研究对弗里德雷希共济失调症(FRDA)的眼球运动和前庭定量测量进行了报道,但特定眼球运动范式的价值仍不明确。我们旨在通过系统的文献综述来填补这一知识空白,并为弗里德里希共济失调症患者提供针对特定疾病的眼球运动记录建议。我们在 MEDLINE 和 Embase 中检索了有关 FRDA 患者眼球运动和/或前庭定量测量的研究报告。提取了有关眼球运动和前庭参数的数据,并寻求与一系列临床参数的相关性。纳入的研究(n = 17)报告了 185 名患者的情况。观察到的异常情况包括:出现囊回侵入(143/161),如方波抽搐(SWJ,90/109)和眼球扑动(21/43);偏心凝视受损(40/104);追视异常(81/93)和角前庭-眼反射(aVOR)缺陷(39/48)。在视觉引导的囊状移动(VGS)方面,我们经常观察到囊状移动延迟增加(27/38)和囊状移动失调(71/93),而囊状移动速度通常保持不变(37/43)。反斜视(AS)潜伏期延长、眼球震颤下跳和频繁的宏SWJ与病程相关。AS潜伏期和VGS潜伏期的延长、频繁的宏观SWJ、aVOR增益的降低和aVOR峰值潜伏期的延长与疾病的严重程度相关。文献记载了多种眼球运动和前庭功能障碍。最常见的报道是追视、眼球移动和视差反应的障碍,因此应优先将其作为疾病标志物。对 FRDA 进行定量眼球运动测试有助于早期诊断,对监测疾病进展和治疗反应也很有价值。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Oculomotor and Vestibular Deficits in Friedreich Ataxia - Systematic Review and Meta-Analysis of Quantitative Measurements

Oculomotor and Vestibular Deficits in Friedreich Ataxia - Systematic Review and Meta-Analysis of Quantitative Measurements

Disease-specific oculomotor assessments play a crucial role in the early diagnosis of hereditary cerebellar ataxias. Whereas several studies have reported on quantitative oculomotor and vestibular measurements in Friedreich’s Ataxia (FRDA), the value of specific oculomotor paradigms remains unclear. We aimed to address this knowledge gap through a systematic literature review and providing disease-specific recommendations for a tailored set of eye-movement recordings in FRDA. MEDLINE and Embase were searched for studies reporting on quantitative oculomotor and/or vestibular measurements in FRDA-patients. Data on oculomotor and vestibular parameters were extracted and correlations with a range of clinical parameters were sought. Included studies (n = 17) reported on 185 patients. Abnormalities observed included the presence of saccadic intrusions (143/161) such as square-wave jerks (SWJ, 90/109) and ocular flutter (21/43), impaired eccentric gaze-holding (40/104), abnormal pursuit (81/93) and angular vestibulo-ocular reflex (aVOR) deficits (39/48). For visually-guided saccades (VGS), we frequently observed increases in saccade latency (27/38) and dysmetric saccades (71/93), whereas saccade velocity was more often preserved (37/43). Augmented anti-saccade (AS) latency, downbeat nystagmus and frequent macro-SWJ correlated with disease duration. Increased AS-latency and VGS-latency, frequent macro-SWJ, reduced aVOR-gain and augmented aVOR peak-latency correlated with disease severity. A broad range of oculomotor and vestibular deficits are documented in the literature. Impairments in pursuit, saccades and aVOR-responses are most commonly reported, and as such, should be prioritized as disease markers. Quantitative oculomotor testing in FRDA may facilitate early diagnosis and prove valuable in monitoring disease progression and treatment response.

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