Patients present with basal ganglia calcifications and white matter abnormalities with early onset-encephalopathy and CSF leukocytosis. Upregulation of type I interferon is thought to an underlying cause of these disorders, and some authors have recommended calling these Type I interferinopathy (IF). Currently seven different types are described
On imaging these patients have basal ganglia calcifications, most commonly involving the putamina. The globi pallidi, thalami, deep and subcortical white matter, and occasionaly the dentate nuclei are calcified along with white matter abnormalities (T2 hyperintensities or calcifications). Cerebellum and brainstem may be asmall.