At the heart of C9ORF72-related amyotrophic lateral sclerosis and frontotemporal dementia (ALS /FTD) research lies the mechanistic question of whether disease is caused by toxic gain of function related to the repeat expansion, loss of endogenous C9ORF72 expression, or both. New findings provide insights to this question.

中文翻译：

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在C9ORF72 ALS / FTD中实现损益。

与C9ORF72相关的肌萎缩性侧索硬化症和额颞叶痴呆（ALS / FTD）研究的核心是机制性问题，即疾病是否由与重复扩增，内源性C9ORF72表达丧失有关的功能性毒性增加或两者引起。新发现为该问题提供了见解。