Department of Neurology, Northwestern University, Feinberg School of Medicine, Chicago, IL, USA.
Weill Cornell Medicine, Feil Family Brain and Mind Research Institute, New York, NY USA.
Amyotroph Lateral Scler Frontotemporal Degener. 2020 Nov;21(sup1):35-46. doi: 10.1080/21678421.2020.1837175.
Primary lateral sclerosis (PLS) is a rare neurodegenerative disease characterized by progressive degeneration of upper motor neurons (UMNs). Recent studies shed new light onto the cellular events that are particularly important for UMN maintenance including intracellular trafficking, mitochondrial energy homeostasis and lipid metabolism. This review summarizes these advances including the role of Alsin as a gene linked to atypical forms of juvenile PLS, and discusses wider aspects of cellular pathology that have been observed in adult forms of PLS. The review further discusses the prospects of new transgenic upper motor neuron reporter mice, human stem cell-derived UMN cultures, cerebral organoids and non-human primates as future model systems to better understand and ultimately treat PLS.
原发性侧索硬化症(PLS)是一种罕见的神经退行性疾病,其特征是上运动神经元(UMN)进行性退化。最近的研究揭示了对于 UMN 维持特别重要的细胞事件,包括细胞内运输、线粒体能量平衡和脂质代谢。本综述总结了这些进展,包括 Als in 作为与青少年 PLS 非典型形式相关的基因的作用,并讨论了在成年 PLS 中观察到的更广泛的细胞病理学方面。该综述进一步讨论了新型转基因上运动神经元报告小鼠、人类干细胞衍生的 UMN 培养物、大脑类器官和非人类灵长类动物作为未来模型系统的前景,以更好地理解并最终治疗 PLS。