基础科学和病原发生学
1Cure MAPT FTD, Denver, CO, USA.
Alzheimer's & dementia : the journal of the Alzheimer's Association
|December 24, 2025
概括
受前性痴呆症 (FTD) MAPT基因突变影响的家庭组建了一个全球组织,分享信息并倡导研究. 该倡议旨在支持受影响的家庭,并加快开发新的FTD疗法.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 是一个遗传学.
- 公共卫生 公共卫生
背景情况:
- 前性痴呆症 (FTD) 是60岁以下人群中最常见的痴呆症.
- 大约30%的FTD病例具有遗传基础,与GRN,C9orf72和MAPT基因的突变有关.
- 尽管在1998年发现了MAPT基因突变,但目前还没有针对性治疗或多站点临床试验.
研究的目的:
- 为受MAPT基因突变影响的家庭建立一个协作网络.
- 促进信息共享,倡导和支持受MAPT相关FTD影响的个人和家庭.
- 解决FTD诊断和治疗资源缺乏的问题.
主要方法:
- 一个非营利组织和数据库于2023年11月由受MAPT突变影响的家庭亲属建立.
- 收集了来自6代和10个国家的42个家庭亲属的信息.
- 数据库包括患有症状疾病的个人,症状前携带者,测试的非携带者,以及有风险或未经测试的成员,共计500多人.
主要成果:
- 该组织在全球组织了42个家庭亲属,包括500多个个人.
- 该网络跨越6代,包括多样化的家庭成员 (症状,前症状,非携带者,有风险).
- 这项国际努力将北美,南美,欧洲,澳大利亚和亚洲的家庭联系在一起.
结论:
- 对患者和家属来说,FTD的负担很大,缺乏有效的诊断和治疗资源也加剧了这种负担.
- 该组织正在与其他FTD团体和机构合作,扩大全球MAPT家庭的覆盖范围.
- 该倡议旨在提供支持,确定宣传领域,促进研究,并为MAPT相关FTD的未来疗法做出贡献.
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