F15 Visual-cognitive impairment in asymptomatic and symptomatic carriers of huntington’s disease (HD)

Miriam Turuelo, R. Pino, M. Acera, M. Díez-Cirarda, T. Fernández, B. Tijero, M. Carmona, Marta Ruíz, J. Sømme, J. Ruiz‐Martinez, A. Gabilondo, I. Croitoru, Lara Pardina, Naia Ayo, Ane Murueta-Goyen, I. Gabilondo, J. Gómez-Esteban
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Abstract

Background HD is an autosomal dominant, hereditary, and neurodegenerative disease that presents neurological, psychiatric, and cognitive impairment, with visual cognition being one of the affected areas. Aims This study aims to analyze the visual cognition profile of asymptomatic and symptomatic carriers of Huntington’s disease (HD), compared with healthy controls (HC), and to evaluate the differences between asymptomatic and symptomatic patients with different years of progression of HD. Methods We evaluated 99 participants, 51 HD carriers [17 asymptomatic, 13 symptomatic ( 5 years of evolution)] and 48 HC matched by sex and educational level. Motor function was rated with UHDRS scale, the general cognitive status was assessed with MoCA test, and a comprehensive battery of visual cognitive instruments was used. The following visual cognitive domains were assessed: visual memory, visuospatial skills and visuoconstructive abilities. One- way ANOVA and Tukey’s test for post hoc analysis were performed to analyze and compare the cognitive performance between the four groups. Results Statistically significant differences were found in the motor function (F(3.1)=14.129; p Conclusions Findings suggest that both symptomatic and asymptomatic HD patients present an increased visual cognitive impairment compared to HC. This impairment worsens with HD progression.
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F15无症状和症状性亨廷顿舞蹈病(HD)携带者的视觉认知障碍
HD是一种常染色体显性、遗传性和神经退行性疾病,表现为神经、精神和认知障碍,视觉认知是受影响的领域之一。目的分析无症状和有症状亨廷顿舞蹈病(HD)携带者的视觉认知特征,并与健康对照(HC)进行比较,评价不同进展年份的无症状和有症状亨廷顿舞蹈病(HD)患者之间的差异。方法我们对99名参与者进行评估,51名HD携带者[17名无症状,13名有症状(5年进化)]和48名HC按性别和文化程度匹配。用UHDRS量表评定运动功能,用MoCA测验评定一般认知状态,并使用一系列综合视觉认知工具。评估了以下视觉认知领域:视觉记忆、视觉空间技能和视觉构建能力。采用单因素方差分析和事后分析的Tukey检验来分析和比较四组之间的认知表现。结果两组运动功能差异有统计学意义(F(3.1)=14.129;结论:研究结果表明,与HC相比,有症状和无症状的HD患者都存在视觉认知障碍。这种损害随着HD的进展而恶化。
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