六十年来亨廷顿病的研究:全球见解,差距和未来方向
Hasini Masna1, Meghana Konda2, Latha Ganti3,4
1Neurology, Flower Mound High School, Dallas, USA.
Cureus
|December 25, 2025
概括
亨廷顿病 (HD) 研究显示,出版物越来越多,主要来自美国,但全球合作有限,对心理健康影响的代表性不足. 为了更好的诊断和治疗,需要进一步的国际合作.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 遗传学 是一个
- 图书统计学 图书统计学
背景情况:
- 亨廷顿病 (HD) 是一种遗传性神经退行性疾病,由亨廷丁 (HTT) 基因中扩大CAG重复引起.
- 疾病导致运动,认知和行为能力逐渐下降,通常是在漫长的症状前期之后.
- 尽管研究取得了进展,但在了解HD的全部影响方面仍然存在差距,包括心理健康,全球合作和早期干预.
研究的目的:
- 对亨廷顿病 (HD) 和其测试的全球研究趋势进行文献计量分析.
- 从1966年到2025年评估作者模式,贡献国家,期刊来源和关键词的共同出现情况.
- 确定研究缺口和未来在疾病疾病研究中关注的领域.
主要方法:
- 从科学网络核心集合 (1966-2025) 中对1515篇出版物的图书法分析.
- 分析作者身份,国家贡献,期刊来源和关键词频率.
- 使用VOSviewer软件可视化作者网络和关键词的同时出现.
主要成果:
- 出版活动在2014年和2018年达到顶峰.
- 美国率先进行了HD研究,其次是欧洲国家.
- 关键词揭示了HD,其他神经退行性疾病 (阿尔茨海默氏症,帕金森氏症),遗传测试,大脑解剖学和动物模型之间的联系.
- 观察到有限的作者合作和少数密集的研究集群.
结论:
- 全球关于HD的研究,特别是遗传机制和治疗建模,正在增长.
- 少数国家和作者团体的集中研究表明全球合作有限.
- 关键的研究差距包括心理健康影响的代表性不足,地理差异和狭窄的期刊传播.
- 建议加强国际合作和多元化研究重点,以推进疾病诊断,治疗和患者护理.
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