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亨廷顿舞蹈症症状进展中的性别差异——一项中国全国性研究

Sex-Specific Differences in the Progression of Huntington's Disease Symptoms - A National Study in China.

作者信息

Chen Shanquan, Zhang Huanyu, Yu Jiazhou, Cao Xi, Zhang Shuyang, Dong Dong

机构信息

International Centre for Evidence in Disability, London School of Hygiene and Tropical Medicine, London, UK.

Shenzhen Research Institute, The Chinese University of Hong Kong, Shenzhen, China,

出版信息

Neuroepidemiology. 2025;59(1):78-86. doi: 10.1159/000539131. Epub 2024 May 30.

Abstract

INTRODUCTION

Huntington's disease (HD) is a rare, inherited neurodegenerative disorder. Despite extensive research on symptom progression and sex differences in Western populations, little is known about these aspects within the Chinese context. The objective of this study was to investigate the temporal trends of symptoms in individuals with HD in China.

METHODS

A nationwide cross-sectional study was conducted in Chinese individuals diagnosed with HD. Symptom progression over time, encompassing physical, psychiatric, and cognitive symptoms, was self-reported. We calculated the proportions of individuals who currently had each symptom by disease duration, and tested corresponding temporal trends by linear regression analyses.

RESULTS

A total of 269 individuals diagnosed with HD were included. Specific symptoms were found to progress more significantly in males compared to females over time, including psychotic symptoms (p = 0.007), urinary incontinence (p = 0.013), reduced concentration (p = 0.005), font alteration (p = 0.029), atypical facial expression (p = 0.037), and suicidal ideation (p = 0.047). In terms of cognitive and psychiatric symptoms, no significant temporal trends were identified in females, while males demonstrated significant increasing trends, with reduced concentration (p = 0.005) and psychotic symptoms (p = 0.007) standing out.

CONCLUSIONS

This study emphasizes the existence of sex-specific symptom progression in HD within the Chinese population, underscoring the importance of considering sex in clinical practice. Further research should investigate the mechanisms behind these differences and explore tailored treatment options.

INTRODUCTION

Huntington's disease (HD) is a rare, inherited neurodegenerative disorder. Despite extensive research on symptom progression and sex differences in Western populations, little is known about these aspects within the Chinese context. The objective of this study was to investigate the temporal trends of symptoms in individuals with HD in China.

METHODS

A nationwide cross-sectional study was conducted in Chinese individuals diagnosed with HD. Symptom progression over time, encompassing physical, psychiatric, and cognitive symptoms, was self-reported. We calculated the proportions of individuals who currently had each symptom by disease duration, and tested corresponding temporal trends by linear regression analyses.

RESULTS

A total of 269 individuals diagnosed with HD were included. Specific symptoms were found to progress more significantly in males compared to females over time, including psychotic symptoms (p = 0.007), urinary incontinence (p = 0.013), reduced concentration (p = 0.005), font alteration (p = 0.029), atypical facial expression (p = 0.037), and suicidal ideation (p = 0.047). In terms of cognitive and psychiatric symptoms, no significant temporal trends were identified in females, while males demonstrated significant increasing trends, with reduced concentration (p = 0.005) and psychotic symptoms (p = 0.007) standing out.

CONCLUSIONS

This study emphasizes the existence of sex-specific symptom progression in HD within the Chinese population, underscoring the importance of considering sex in clinical practice. Further research should investigate the mechanisms behind these differences and explore tailored treatment options.

摘要

引言

亨廷顿舞蹈症(HD)是一种罕见的遗传性神经退行性疾病。尽管西方人群对症状进展和性别差异进行了广泛研究,但在中国背景下,对这些方面知之甚少。本研究的目的是调查中国HD患者症状的时间趋势。

方法

对诊断为HD的中国个体进行了一项全国性横断面研究。通过自我报告了解随时间推移的症状进展情况,包括身体、精神和认知症状。我们计算了按病程划分的当前患有每种症状的个体比例,并通过线性回归分析检验相应的时间趋势。

结果

共纳入269名诊断为HD的个体。随着时间推移,发现特定症状在男性中比女性进展更显著,包括精神病性症状(p = 0.007)、尿失禁(p = 0.013)、注意力不集中(p = 0.005)、字体改变(p = 0.029)、非典型面部表情(p = 0.037)和自杀观念(p = 0.047)。在认知和精神症状方面,女性未发现显著的时间趋势,而男性表现出显著的上升趋势,其中注意力不集中(p = 0.005)和精神病性症状(p = 0.007)尤为突出。

结论

本研究强调了中国人群中HD存在性别特异性症状进展,突出了在临床实践中考虑性别的重要性。进一步的研究应调查这些差异背后的机制,并探索针对性的治疗方案。

引言

亨廷顿舞蹈症(HD)是一种罕见的遗传性神经退行性疾病。尽管西方人群对症状进展和性别差异进行了广泛研究,但在中国背景下,对这些方面知之甚少。本研究的目的是调查中国HD患者症状的时间趋势。

方法

对诊断为HD的中国个体进行了一项全国性横断面研究。通过自我报告了解随时间推移的症状进展情况,包括身体、精神和认知症状。我们计算了按病程划分的当前患有每种症状的个体比例,并通过线性回归分析检验相应的时间趋势。

结果

共纳入269名诊断为HD的个体。随着时间推移,发现特定症状在男性中比女性进展更显著,包括精神病性症状(p = 0.007)、尿失禁(p = 0.013)、注意力不集中(p = 0.005)、字体改变(p = 0.029)、非典型面部表情(p = 0.037)和自杀观念(p = 0.047)。在认知和精神症状方面,女性未发现显著的时间趋势,而男性表现出显著的上升趋势,其中注意力不集中(p = 0.005)和精神病性症状(p = 0.007)尤为突出。

结论

本研究强调了中国人群中HD存在性别特异性症状进展,突出了在临床实践中考虑性别的重要性。进一步的研究应调查这些差异背后的机制,并探索针对性的治疗方案。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b613/11797925/c73eeb7f2837/ned-2025-0059-0001-539131_F01.jpg

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