In the three cases carrying an FGF14 (GAA)250–299 expansion and olivopontocerebellar atrophy (Patients P6, P9 and P10), macroscopic and microscopic examination showed cerebellar white matter atrophy and moderate depletion of Purkinje cells, with good preservation of the granule cell layer and mild gliosis in the molecular layer. The gene discussed is FGF14; the disease is olivopontocerebellar atrophy.