Further, our analyses of the development of cerebellar injury and ataxia in Smox/Sat1-dKO mice indicated that this was due to extensive damage to and degeneration of Purkinje cells (reduced calbindin1 expression and increased fluorescence of Purkinje cells in FJC stained sections), vacuolization of the Purkinje cell layer (histopathology), gliosis (increased GFAP and IBA1 staining), and, at later stages, marked demyelination of white matter, severe edema and leptomeningeal leukocyte infiltration. The gene discussed is AIF1; the disease is cerebellar ataxia.