Yang Chen, Gravendeel Nienke, On Amy Chin, Post Laura, van Bergen Ryan, Osorio Catarina, Schonewille Martijn
Department of Neuroscience, Erasmus Medical Center, 3015 GE Rotterdam, The Netherlands.
Int J Mol Sci. 2025 May 14;26(10):4698. doi: 10.3390/ijms26104698.
Spinocerebellar ataxia type 1 (SCA1) is a neurodegenerative disorder that predominantly affects the Purkinje cells (PCs) of the cerebellum, leading to cerebellar degeneration, motor dysfunction, and cognitive impairment. Sphingosine-1-phosphate (S1P) signaling, known to modulate neuroinflammation, has been identified as a potential therapeutic target in SCA1. To investigate the therapeutic efficacy of the S1P modulator fingolimod, we treated a mouse model for SCA1, ATXN1[82Q]/+ mice during three different periods with fingolimod and assessed the effects. Potential therapeutic effects were monitored by tracking locomotion during the treatment period and examining PC morphology, connectivity, and markers for neuroinflammation post-mortem. Fingolimod treatment reduced astrocyte and microglial activation during all three treatment periods. We found no effect on calbindin levels or the thickness of the molecular layer, but fingolimod did improve the extent of the synaptic input of climbing fibers to PCs. While fingolimod improved important aspects of cellular pathology, we could only detect signs of improvement in the locomotion phenotype when treatment started at a later stage of the disease. In conclusion, fingolimod is able to mitigate neuroinflammation, preserve aspects of PC function in SCA1, and remediate part of the ataxia phenotype when treatment is appropriately timed. Although behavioral benefits were limited, targeting S1P pathways represents a potential therapeutic strategy for SCA1. Further studies are needed to optimize treatment regimens and assess long-term outcomes.
1型脊髓小脑共济失调(SCA1)是一种神经退行性疾病,主要影响小脑的浦肯野细胞(PC),导致小脑变性、运动功能障碍和认知障碍。鞘氨醇-1-磷酸(S1P)信号通路已知可调节神经炎症,已被确定为SCA1的潜在治疗靶点。为了研究S1P调节剂芬戈莫德的治疗效果,我们在三个不同时期用芬戈莫德治疗SCA1小鼠模型ATXN1[82Q]/+小鼠,并评估其效果。在治疗期间通过跟踪运动以及在死后检查PC形态、连接性和神经炎症标志物来监测潜在的治疗效果。在所有三个治疗时期,芬戈莫德治疗均降低了星形胶质细胞和小胶质细胞的激活。我们发现对钙结合蛋白水平或分子层厚度没有影响,但芬戈莫德确实改善了攀爬纤维向PC的突触输入程度。虽然芬戈莫德改善了细胞病理学的重要方面,但只有在疾病后期开始治疗时,我们才能检测到运动表型的改善迹象。总之,芬戈莫德能够减轻神经炎症,在SCA1中保留PC功能的某些方面,并在适当的治疗时机纠正部分共济失调表型。尽管行为益处有限,但靶向S1P通路代表了SCA1的一种潜在治疗策略。需要进一步研究来优化治疗方案并评估长期结果。