Poznan University of Medical Sciences, Poland, Department of Epidemiology of Rare Disorders and Neuroepidemiology, Poznan, Poland.
Faculty of Mathematics and Computer Science, Adam Mickiewicz University, Poznan, Poland.
Parkinsonism Relat Disord. 2018 Apr;49:42-47. doi: 10.1016/j.parkreldis.2018.01.006. Epub 2018 Jan 5.
Huntington's disease (HD) is a neurodegenerative autosomal dominant disorder affecting patients' motor, behavioral and cognitive domains leading to total dependency for activities of daily life. This study compares whether gender differences in motor, cognitive and behavioral symptoms affect function and how functional impairment affects quality of life (QoL).
We recruited 2191 subjects from the REGISTRY data base that provides personal data, HD age of onset, visit date, CAG mutation size, UHDRS and TFC scores from at least one visit. For 1166 participants SF-36 was also available. We calculated Spearman coefficients for correlations between particular symptomatic domains and functional scales, Fisher z-transform was used to test whether differences in correlations between genders were statistically significant. Simultaneous linear regression with least-square fit method was used to determine for how much variability in functional scales the particular symptomatic domains are responsible. ANOVA was used to look for QoL differences between TFC-stage based groups. Baseline statistics showed no significant differences between genders.
Motor, cognitive and behavioral domains contributed significantly to function and independence. The motor domain contributed most followed by the cognitive and to a lesser degree by the behavioral domain. Motor symptoms correlated more with functional ability and influenced function variability more in women than in men. The decline in functional abilities correlated significantly with QoL decline.
Motor symptoms have highest impact on function in HD, moreover these symptoms affect female function and independence more than males. Results indicate that symptomatic treatment targeting motor symptoms is needed to improve HD function and QoL.
亨廷顿病（HD）是一种影响患者运动、行为和认知领域的神经退行性常染色体显性疾病，导致日常生活活动完全依赖。本研究比较了运动、认知和行为症状的性别差异是否会影响功能，以及功能障碍如何影响生活质量（QoL）。
我们从 REGISTRY 数据库中招募了 2191 名受试者，该数据库提供个人数据、HD 发病年龄、就诊日期、CAG 突变大小、UHDRS 和 TFC 评分，至少有一次就诊。对于 1166 名参与者，还提供了 SF-36。我们计算了特定症状域与功能量表之间的 Spearman 系数，Fisher z 变换用于测试性别之间相关性的差异是否具有统计学意义。使用最小二乘拟合方法的同时线性回归用于确定特定症状域对功能量表的可变性负责多少。ANOVA 用于根据 TFC 阶段组寻找 QoL 差异。基线统计数据显示性别之间无显著差异。
运动、认知和行为域对功能和独立性有显著贡献。运动域贡献最大，其次是认知域，行为域贡献较小。运动症状与功能能力的相关性更强，对女性功能和独立性的影响大于男性。功能能力下降与 QoL 下降显著相关。
运动症状对 HD 功能的影响最大，此外，这些症状对女性的功能和独立性的影响大于男性。结果表明，需要针对运动症状的对症治疗来改善 HD 的功能和 QoL。
