Reply: A new diagnostic entity must enable earlier treatment in gene carriers.
Reply: A new diagnostic entity must enable earlier treatment in gene carriers.
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答复：新的诊断实体必须能够对基因携带者进行早期治疗。
DOI：
10.1093/brain/awad165
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发表时间：
2023
期刊：
影响因子：
--
通讯作者：
Wuu,Joanne
中科院分区：
文献类型：
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作者：
Benatar,Michael;Al-Chalabi,Ammar;Crawley,Anita;Wuu,Joanne
Swidler等人在其致编辑的信中，“一种新的诊断实体必须能够在基因携带者中进行早期治疗”，1强调了最近对肌萎缩侧索硬化症（ALS）/额颞叶痴呆（FTD）前前驱临床状态的描述2，3，并呼吁注意许多值得公开讨论的重要问题。虽然我们同意他们的大部分论点，但我们希望在他们的信中提供一些与这些观点相关的背景和澄清：症状前基因突变携带者是具有重大临床护理需求的患者;那些基于遗传风险易患ALS或已发展为前驱疾病的人“应该获得有效的干预措施或干预性临床试验，因为他们希望”;以及在这一人群中“从观察到干预”是否已经过去。
In their Letter to the Editor,‘A new diagnostic entity must enable earlier treatment in gene carriers’, Swidler et al. 1 highlight the recent description of prodromal clinical states that precede amyotrophic lateral sclerosis (ALS)/frontotemporal dementia (FTD) 2, 3 and call to attention many important issues that are worthy of public discourse. While we agree with most of their arguments, we wish to provide some context and clarifications related to these points in their letter: that presymptomatic gene mutation carriers are patients with significant clinical care needs; that those who are susceptible to ALS based on genetic risk or have developed prodromal disease ‘deserve access to efficacious interventions or interventional clinical trials as they desire’; and ‘whether it is past time to move from observation to intervention’in this population.