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亨廷顿舞蹈症患者在自由观看期间的扫视、瞳孔反应和眨眼异常

Saccades, pupil response and blink abnormalities in Huntington's disease patients during free viewing.

作者信息

Reyes-Lopez Mariana, Vaca-Palomares Israel, Dávila-Ortiz de Montellano David José, White Brian J, Brien Donald C, Coe Brian C, Munoz Douglas P, Fernandez-Ruiz Juan

机构信息

Ciencias Cognitivas y del Comportamiento, Facultad de Psicología, Universidad Nacional Autónoma de México, CDMX, Mexico.

Departamento de Genética, Instituto Nacional de Neurología y Neurocirugía, "Manuel Velasco Suarez", CDMX, Mexico.

出版信息

Clin Neurophysiol. 2024 Sep;165:117-124. doi: 10.1016/j.clinph.2024.06.012. Epub 2024 Jun 29.

DOI:10.1016/j.clinph.2024.06.012
PMID:39013355
Abstract

OBJECTIVE

Video-based eye tracking was used to investigate saccade, pupil, and blink abnormalities among patients with Huntington's disease (HD) who watched sequences of short videos. HD, an autosomal dominant neurodegenerative disorder resulting from a CAG mutation on chromosome 4, produces motor and cognitive impairments including slow or irregular eye movements, which have been studied using structured tasks.

METHODS

To explore how HD affects eye movements under instruction free conditions, we assessed 22 HD patients and their age matched controls in a 10-minute video-based free viewing task.

RESULTS

Patients with HD experienced a significant reduction in saccade exploration rate following video clip transitions, an increase in pupil reactions to luminance changes after clip transitions, and a significant higher blink rate throughout the task compared to the control group.

CONCLUSIONS

These results show that HD has a significant impact on how patients visually explore and respond to their environment under unconstrained and ecologically natural conditions.

SIGNIFICANCE

Eye tracking in HD patients revealed saccadic, pupil, and blink abnormalities in early HD patients, suggestive of brain circuitry abnormalities that probably involve brain stem deficits. Further research should explore the impact of these changes on the quality of life of the patients affected by the disease.

摘要

目的

采用基于视频的眼动追踪技术,研究观看短视频序列的亨廷顿舞蹈症(HD)患者的扫视、瞳孔和眨眼异常情况。HD是一种由4号染色体上的CAG突变引起的常染色体显性神经退行性疾病,会导致运动和认知障碍,包括缓慢或不规则的眼球运动,此前已通过结构化任务对其进行了研究。

方法

为探究HD在无指令条件下如何影响眼球运动,我们让22名HD患者及其年龄匹配的对照组参与了一项基于视频的10分钟自由观看任务。

结果

与对照组相比,HD患者在视频片段转换后扫视探索率显著降低,片段转换后对亮度变化的瞳孔反应增加,且在整个任务过程中的眨眼率显著更高。

结论

这些结果表明,HD对患者在无约束且生态自然条件下视觉探索和应对环境的方式有显著影响。

意义

对HD患者的眼动追踪揭示了早期HD患者的扫视、瞳孔和眨眼异常,提示可能涉及脑干缺陷的脑回路异常。进一步的研究应探索这些变化对受该疾病影响患者生活质量的影响。

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