Why do so many genetic insults lead to Purkinje Cell degeneration and spinocerebellar ataxia?

NEUROSCIENCE LETTERS

卷:688

Review

Huang, Miaozhen¹  Verbeek, Dineke S.¹ 

[1] Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlands

关键词: Purkinje Cell;    Spinocerebellar ataxia;    Genetic mechanisms;    Neurodegeneration;    Pathway analysis;   

DOI  :  10.1016/j.neulet.2018.02.004

来源: Elsevier

【 摘 要 】

The genetically heterozygous spinocerebellar ataxias are all characterized by cerebellar atrophy and pervasive Purkinje Cell degeneration. Up to date, more than 35 functionally diverse spinocerebellar ataxia genes have been identified. The main question that remains yet unsolved is why do some many genetic insults lead to Purkinje Cell degeneration and spinocerebellar ataxia? To address this question it is important to identify intrinsic pathways important for Purkinje Cell function and survival. In this review, we discuss the current consensus on shared mechanisms underlying the pervasive Purkinje Cell loss in spinocerebellar ataxia. Additionally, using recently published cell type specific expression data, we identified several Purkinje Cell-specific genes and discuss how the corresponding pathways might underlie the vulnerability of Purkinje Cells in response to the diverse genetic insults causing spinocerebellar ataxia.

【 授权许可】

Free