OBJECTIVE To investigate cognitive inhibition in presymptomatic C9orf72 mutation carriers (C9+) and its associated neuroanatomical correlates. METHODS Thirty-eight presymptomatic C9orf72 mutation carriers (C9+, mean age 38.2±8.0 years) and 22 C9- controls from the PREV-DEMALS cohort were included in this study. They underwent a cognitive inhibition assessment with the Hayling Sentence Completion Test (HSCT; time to completion (part B-part A); error score in part B) as well as a 3D MRI. RESULTS C9+ individuals younger than 40 years had higher error scores (part B) but equivalent HSCT time to completion (part B-part A) compared to C9- individuals. C9+ individuals older than 40 years had both higher error scores and longer time to completion. HSCT time to completion significantly predicted the proximity to estimated clinical conversion from presymptomatic to symptomatic phase in C9+ individuals (based on the average age at onset of affected relatives in the family). Anatomically, we found that HSCT time to completion was associated with the integrity of the cerebellum. CONCLUSION The HSCT represents a good marker of cognitive inhibition impairments in C9+ and of proximity to clinical conversion. This study also highlights the key role of the cerebellum in cognitive inhibition.

中文翻译：

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症状前C9orf72携带者的认知抑制功能障碍。

目的探讨症状前C9orf72突变携带者（C9 +）及其相关神经解剖学相关因素的认知抑制作用。方法本研究纳入了来自PREV-DEMALS队列的38名有症状的C9orf72突变携带者（C9 +，平均年龄38.2±8.0岁）和22名C9-对照。他们通过Hayling句子完成测验（HSCT;完成时间（B部分A部分）; B部分错误评分）以及3D MRI进行了认知抑制评估。结果与C9-个人相比，年龄小于40岁的C9 +个人的错误评分较高（B部分），但完成HSCT的时间相同（B部分A部分）。40岁以上的C9 +个人既有较高的错误评分，又有较长的完成时间。HSCT的完成时间显着预测了C9 +个体从症状前期到症状期的估计临床转换的接近程度（基于家庭中受影响亲戚发病的平均年龄）。解剖学上，我们发现HSCT完成时间与小脑的完整性有关。结论HSCT是C9 +认知抑制障碍和接近临床转化的良好标志。这项研究还强调了小脑在认知抑制中的关键作用。结论HSCT是C9 +认知抑制障碍和接近临床转化的良好标志。这项研究还强调了小脑在认知抑制中的关键作用。结论HSCT是C9 +认知抑制障碍和接近临床转化的良好标志。这项研究还强调了小脑在认知抑制中的关键作用。