The Emerging Key Role of the mGluR1-PKCγ Signaling Pathway in the Pathogenesis of Spinocerebellar Ataxias: A Neurodevelopmental Viewpoint

Spinocerebellar ataxias (SCAs) are a heterogeneous group of autosomal dominantly inherited progressive disorders with degeneration and dysfunction of the cerebellum. Although different subtypes of SCAs are classified according to the disease-associated causative genes, the clinical syndrome of the ataxia is shared, pointing towards a possible convergent pathogenic pathway among SCAs. In this review, we summarize the role of SCA-associated gene function during cerebellar Purkinje cell development and discuss the relationship between SCA pathogenesis and neurodevelopment. We will summarize recent studies on molecules involved in SCA pathogenesis and will focus on the mGluR1-PKC gamma signaling pathway evaluating the possibility that this might be a common pathway which contributes to these diseases.

Automated summary

This article summarizes the clinical features of spinocerebellar ataxias (SCAs) and the role of gene function in cerebellar Purkinje cell development. It also discusses the relationship between SCA pathogenesis and neurodevelopment, with a focus on the potential common pathway involved in these diseases, namely the mGluR1-PKC gamma signaling pathway.