Topic: SCA14

Spinocerebellar ataxia (SCA) is a rare neurodegenerative disorder characterized by cerebellar dysfunction, involving Purkinje cell (PC) degeneration and cerebellar atrophy. With over 40 genetic variations, our focus is on SCA14 which is caused by mutations in the Protein Kinase C Gamma Gene (PRKCG). In our laboratory, we are taking advantage of two mouse models (PKCγ-S361G transgenic line and PKCγ-A24E knock-in line) with a constitutively active PKCγ, showing PC dendritic disruption and an ataxic motor phenotype. Using RNA-sequencing data comparing cerebellar samples from PKCγ-A24E mice with

Spinocerebellar ataxias (SCAs) are characterized by cerebellar atrophy and the degeneration of Purkinje neurons resulting from mutations in various genes. Specifically, in SCA14, the disease is caused by point mutations or deletions in the protein kinase C gamma (PKCγ) gene. PKCγ is a serine/threonine kinase predominantly expressed in cerebellar Purkinje cells, and plays a crucial role in the regulation of synapse formation and dendritic development of Purkinje cells. However, the precise mechanisms underlying these processes are not fully understood yet. In this project, our aim is to investi