Pino Rocio Del, Acera Maria Ángeles, de Echevarrría Amaia Ortiz, Tijero Beatriz, Ruiz-Lopez Marta, Somme Johanne, Ruiz-Martínez Javier, Gabilondo Andrea, Croitoru Ioana M, Pardina Lara, Ayo-Mentxakatorre Naia, Murueta-Goyena Ane, Gabilondo Iñigo, Sanchez-Pernaute Rosario, Fernández-Valle Tamara, Esteban Juan Carlos Gómez
Neurodegenerative Diseases Group, Biobizkaia Health Research Institute, Plaza de Cruces 12, Barakaldo (Bizkaia), Barakaldo, CP 48903, Spain.
Neurology Department, Cruces University Hospital, Osakidetza, Barakaldo, Spain.
Sci Rep. 2025 Feb 8;15(1):4707. doi: 10.1038/s41598-025-88406-5.
Cognitive and visual impairment are common in Huntington's Disease (HD) and may precede motor diagnosis. We investigate the early presence of visual cognitive deficits in 181 participants, including HD carriers (40 pre-manifest, 30 early manifest, 27 manifest, and 6 reduced penetrance) and 78 healthy controls (HC). Significant differences in visual memory were observed between reduced penetrance and pre-manifest groups (p = .003), with pre-manifest showing worse performance. Age, education, CAG repeats, motor status, executive function, and verbal fluency, accounted for up to 72.8% of the variance in general and visual cognitive functions, with motor status having the strongest impact on visual domains in HD carriers. In pre-manifest HD, visual cognitive domains were primarily influenced by executive function, verbal fluency, age, and CAG repeats, while in early and manifest stages motor status and verbal fluency becomes more influential. ROC analyses showed that especially visuospatial abilities, visual memory, and visual attention (AUC = 0.927, 0.878, 0.874, respectively) effectively differentiated HC and pre-manifest from early and manifest HD. Early assessment of visual cognitive domains, particularly visual memory, could be an early marker of cognitive decline in HD. Our findings highlight the different profiles of impairment in visual cognition across HD carriers.
认知和视觉障碍在亨廷顿舞蹈症（HD）中很常见，且可能先于运动症状出现而被诊断出来。我们对181名参与者进行了研究，以调查视觉认知缺陷的早期存在情况，这些参与者包括HD携带者（40名症状前、30名早期症状、27名症状期和6名低外显率）以及78名健康对照者（HC）。在低外显率组和症状前组之间观察到视觉记忆存在显著差异（p = 0.003），症状前组表现更差。年龄、教育程度、CAG重复序列、运动状态、执行功能和语言流畅性，在总体认知功能和视觉认知功能的差异中占比高达72.8%，其中运动状态对HD携带者的视觉领域影响最大。在症状前HD中，视觉认知领域主要受执行功能、语言流畅性、年龄和CAG重复序列的影响，而在早期和症状期，运动状态和语言流畅性的影响更大。ROC分析表明，尤其是视觉空间能力、视觉记忆和视觉注意力（AUC分别为0.927、0.878、0.874）能有效区分HC与HD症状前组和早期及症状期组。对视觉认知领域，特别是视觉记忆的早期评估，可能是HD认知衰退的早期标志物。我们的研究结果突出了HD携带者视觉认知障碍的不同特征。
