正常压力脑水症的遗传风险因素:我们所知道的以及下一步的情况
Camila C Piccinin1, Saar Anis1, Jeryl Ritzi T Yu2,3
1Center for Neurological Restoration, Neurological Institute, Cleveland Clinic, Cleveland, Ohio, USA.
概括
遗传因素对正常压力脑病 (NPH) 的风险有很大影响. 这次审查确定了关键的遗传变异和关联,强调了遗传学在NPH发展中的作用.
科学领域:
- 神经遗传学 神经遗传学
- 人类遗传学 人类遗传学
- 神经学 神经学
背景情况:
- 正常压水脑 (NPH) 是一种神经疾病,人们对其遗传基础的理解正在不断发展.
- 家庭病例和遗传关联表明NPH的遗传成分.
- 以前的研究已经探索了遗传联系,但需要进行全面的审查.
研究的目的:
- 系统地审查和综合当前关于导致正常压力水脑 (NPH) 风险的遗传因素的知识.
- 为了确定特定的遗传变异,家族模式,以及与NPH中其他神经遗传障碍的关联.
- 探索转录学在理解NPH病变发生过程中的作用.
主要方法:
- 系统的文学搜索奥维德的Embase,奥维德的Medline,科学网,和Cochrane中央直到2024年10月14日.
- 包括报告家族性NPH,遗传变异,与其他神经遗传疾病的关联以及转录组学的人类研究.
- 排除二次性,阻塞性和先天性水头;对发现的叙述性报告.
主要成果:
- 56项研究符合纳入标准,主要来自欧洲人群,确定了30多例家族NPH病例.
- 10%-16%的NPH患者有NPH症状的亲属,这表明家族聚合.
- 确定了与屏障功能和眼相关的基因 (例如,CFAP43,SFMBT1,CWH43) 附近的风险变异,以及与C9orf72扩张和其他神经退行性疾病的关联.
结论:
- 遗传因素在正常压力脑症 (NPH) 风险中起着重要作用,影响屏障功能和眼.
- 进一步的研究需要产生大数据,识别多样化的遗传变异,并整合临床和环境数据.
- 了解基因贡献对于推进NPH研究和潜在的治疗策略至关重要.
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