Department of Neuroscience, Erasmus MC, 3000 DR, Rotterdam, The Netherlands.
The ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, 3015GD, The Netherlands.
Sci Rep. 2022 Nov 9;12(1):19041. doi: 10.1038/s41598-022-21429-4.
Individuals with Neurofibromatosis type 1 (NF1) experience a high degree of motor problems. The cerebellum plays a pivotal role in motor functioning and the NF1 gene is highly expressed in cerebellar Purkinje cells. However, it is not well understood to what extent NF1 affects cerebellar functioning and how this relates to NF1 motor functioning. Therefore, we subjected global Nf1 mice to a cerebellum-dependent associative learning task, called Pavlovian eyeblink conditioning. Additionally, we assessed general motor function and muscle strength in Nf1 mice. To our surprise, we found that Nf1 mice showed a moderately increased learning rate of conditioned eyeblink responses, as well as improved accuracy in the adaptive timing of the eyeblink responses. Locomotion, balance, general motor function, and muscle strength were not affected in Nf1 mice. Together, our results support the view that cerebellar function in Nf1 mice is unimpaired.
患有神经纤维瘤病 1 型(NF1)的个体经历高度的运动问题。小脑在运动功能中起着关键作用,NF1 基因在小脑浦肯野细胞中高度表达。然而,NF1 对小脑功能的影响程度以及与 NF1 运动功能的关系尚不清楚。因此,我们让全身性 Nf1 小鼠接受了一项依赖于小脑的联想学习任务,称为条件性眨眼反射。此外,我们还评估了 Nf1 小鼠的一般运动功能和肌肉力量。令我们惊讶的是,我们发现 Nf1 小鼠对条件性眨眼反应的学习速度有适度增加,并且对眨眼反应的适应性时间的准确性也有所提高。Nf1 小鼠的运动、平衡、一般运动功能和肌肉力量不受影响。总之,我们的结果支持小脑功能在 Nf1 小鼠中未受损的观点。