プルキンエ細胞
ARCA1 is caused by the mutated SYNE1 gene that is vital for the synthesis of Syne-1 protein in the Purkinje cells of the cerebellum. Deformed Syne-1 protein disrupts normal Purkinje cell functions and impairs its signalling with cerebellar neurons. To date it is still unclear how the impaired syne-1 proteins leads to the loss of cells in the cerebellum that contribute to ARCA1.