The human δ2 glutamate receptor gene is not mutated in spinocerebellar ataxia patients

(Neural Regeneration Research) Recent studies have demonstrated that glutamate receptor δ2 gene (GRID2) is closely related to cerebellar functions in mice. This gene is predominantly located in postsynaptic dendrites of parallel fiber-Purkinje cell synapses in the cerebellum and contains potential fragile sites within large introns. These fragile sites easily develop spontaneous mutation, which leads to Purkinje cell death, contributing to the manifestation of spinocerebellar ataxia in mice.
Source: EurekAlert! - Medicine and Health - Category: Global & Universal Source Type: news