The autosomal dominantly inherited spinocerebellar ataxias (SCAs) are a complex group of neurodegenerative disorders that are characterized by the dysfunction of the cerebellum and its associated pathways. Aberrant function of the metabotropic glutamate receptor mGluR1 and its downstream signalling partners have been implicated in multiple SCA subtypes, pointing towards a common disease mechanism underlying these disorders. Research in our group is focused on elucidating the role of aberrant mGluR1-TRPC3 signalling in SCA and how this could be exploited therapeutically. In this talk, I will present new insights that we have gained from generating the first mouse model of SCA44 harbouring a gain-of-function mutation in the Grm1gene encoding mGlur1.
Organizer
Catarina Osorio
c.osorio@erasmusmc.nl