Poznan University of Medical Sciences, Department of Social Medicine, Rokietnicka Str., No. 5 C, 60-806 Poznan, Poland.
Parkinsonism Relat Disord. 2013 Feb;19(2):192-7. doi: 10.1016/j.parkreldis.2012.09.012. Epub 2012 Oct 25.
Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder. The aim of this study is to determine whether gender plays a role in the phenotypic expression and progression of HD.
1267 patients with HD (636 women) from the Registry project of the EHDN were included. A cross-sectional analysis (ANCOVA) controlling for differences in age at onset, disease burden, disease duration, smoking status, alcohol abuse, depression and the number of years of education, was performed to evaluate if there were differences between men and women in UHDRS motor, function and cognitive scores. Additionally, analyses on follow-up data using linear mixed models with the same covariates were performed to test for gender-related differences in progression.
Baseline features did not differ between genders, with the exception of a higher frequency of past and current depression among women, and a higher number of years of education as well as more frequent alcohol abuse and smoking among men. In the cross-sectional ANCOVA analyses of patients with a mid-age HD onset, women showed worse scores than men in the functional domain (TFC, P = 0.001; UHDRS functional, P = 0.033), UHDRS motor (P = 0.033). The longitudinal analyses showed a faster rate of progression in women in the functional assessment (P = 0.025), the motor assessment (P = 0.032) and the independence scale (P = 0.008).
These results suggest a complex gender effect on the phenotypical presentation and the rate of disease progression in HD, with slightly more severe phenotype and faster rate of progression in women in especially the motor and functional domains.
亨廷顿病(HD)是一种常染色体显性神经退行性疾病。本研究旨在确定性别是否在 HD 的表型表达和进展中起作用。
共纳入来自 EHDN 注册项目的 1267 名 HD 患者(636 名女性)。采用协方差分析(ANCOVA)控制发病年龄、疾病负担、疾病持续时间、吸烟状况、酒精滥用、抑郁和受教育年限的差异,评估男性和女性在 UHDRS 运动、功能和认知评分方面是否存在差异。此外,还使用具有相同协变量的线性混合模型对随访数据进行分析,以测试性别与进展之间的差异。
除女性中过去和现在抑郁的频率较高,男性中受教育年限较高、酒精滥用和吸烟较频繁外,两性的基线特征无差异。在中年 HD 发病患者的横断面 ANCOVA 分析中,女性在功能域(TFC,P = 0.001;UHDRS 功能,P = 0.033)、UHDRS 运动(P = 0.033)方面的评分较男性差。纵向分析显示,女性在功能评估(P = 0.025)、运动评估(P = 0.032)和独立性量表(P = 0.008)的进展速度较快。
这些结果表明,性别对 HD 的表型表现和疾病进展速度有复杂的影响,女性的表型略严重,尤其是在运动和功能领域,进展速度更快。