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亨廷顿病扩散有多少人:苏格兰北部基于人口的流行率研究

Heather Cruickshank¹, Zosia Miedzybrodzka^1,2

¹North of Scotland Regional Genetics Service, Clinical Genetics, Aberdeen, UK.

Neuroepidemiology

|December 1, 2024

概括

在苏格兰北部,每10万人中有超过45人患亨廷顿病 (HD) 的风险为50%. 这项研究强调了对亨廷丁 (HTT) 基因扩张进行改进的遗传咨询和测试的需要.

科学领域:

神经学神经学
遗传学是一个遗传学.
公共卫生公共卫生

背景情况:

亨廷顿病 (HD) 在苏格兰北部每10万人中发生14.6例.
许多对亨廷丁 (HTT) 基因扩张有风险的个体仍然未经测试.
了解风险人群的流行程度对于服务规划至关重要.

研究的目的:

估计北苏格兰有50%患HTT基因扩张风险的人数.
为HD诊所服务规划提供信息.
确定有资格接受未来有效治疗的潜在人数.

主要方法:

来自苏格兰北部遗传诊所的临床和血统记录的分析.
估计明显的HD患者,确定的症状前基因扩张载体 (IPGEC) 和50%风险的个体.
基于人口数据的流行率计算.

主要成果:

患有HTT基因扩张50%风险的个体的患病率为每10万人的45.2.
每个明显的HD患者平均有4.4个有风险的亲属.
高达415名成年人 (每10万人中有46.2人) 可以从有效的治疗中受益,这可能是低估的.

结论:

至少有2.2个成年人与HTT基因扩张存在于每一个明显的HD患者.
在服务规划中,必须考虑HD流行和确诊的区域差异.
未来的计划应该包括遗传咨询,检测,管理和治疗HD的治疗.

关键词:

遗传学是一个遗传学.亨廷顿病就是亨廷顿病.苏格兰北部的苏格兰北部基于人口的研究.流行程度流行程度

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