Fucà Elisa, Guglielmotto Michela, Boda Enrica, Rossi Ferdinando, Leto Ketty, Buffo Annalisa
Department of Neuroscience Rita Levi-Montalcini, University of Turin, Italy; Neuroscience Institute Cavalieri Ottolenghi, Regione Gonzole, 10043 Orbassano, Turin, Italy.
Neuroscience Institute Cavalieri Ottolenghi, Regione Gonzole, 10043 Orbassano, Turin, Italy.
Neurobiol Dis. 2017 Jun;102:49-59. doi: 10.1016/j.nbd.2017.02.005. Epub 2017 Feb 24.
Treatment options for degenerative cerebellar ataxias are currently very limited. A large fraction of such disorders is represented by hereditary cerebellar ataxias, whose familiar transmission facilitates an early diagnosis and may possibly allow to start preventive treatments before the onset of the neurodegeneration and appearance of first symptoms. In spite of the heterogeneous aetiology, histological alterations of ataxias often include the primary degeneration of the cerebellar cortex caused by Purkinje cells (PCs) loss. Thus, approaches aimed at replacing or preserving PCs could represent promising ways of disease management. In the present study, we compared the efficacy of two different preventive strategies, namely cell replacement and motor training. We used tambaleante (tbl) mice as a model for progressive ataxia caused by selective loss of PCs and evaluated the effectiveness of the preventive transplantation of healthy PCs into early postnatal tbl cerebella, in terms of PC replacement and functional preservation. On the other hand, we investigated the effects of motor training on PC survival, cerebellar circuitry and their behavioral correlates. Our results demonstrate that, despite a good survival rate and integration of grafted PCs, the adopted grafting protocol could not alleviate the ataxic symptoms in tbl mice. Conversely, preventive motor training increases PCs survival with a moderate positive impact on the motor phenotype.
目前,退行性小脑共济失调的治疗选择非常有限。这类疾病很大一部分是遗传性小脑共济失调,其家族遗传特征有助于早期诊断,并有可能在神经退行性变和首次症状出现之前开始预防性治疗。尽管病因各异,但共济失调的组织学改变通常包括由浦肯野细胞(PCs)丢失导致的小脑皮质原发性变性。因此,旨在替代或保留PCs的方法可能是有前景的疾病管理方式。在本研究中,我们比较了两种不同预防策略的效果,即细胞替代和运动训练。我们使用tambaleante(tbl)小鼠作为由PCs选择性丢失引起的进行性共济失调的模型,并评估了在出生后早期将健康PCs预防性移植到tbl小鼠小脑中,在PCs替代和功能保留方面的有效性。另一方面,我们研究了运动训练对PCs存活、小脑回路及其行为相关性的影响。我们的结果表明,尽管移植的PCs存活率和整合情况良好,但所采用的移植方案并不能缓解tbl小鼠的共济失调症状。相反,预防性运动训练可提高PCs存活率,并对运动表型产生适度的积极影响。