Diffuse Brain Calcification, a Novel SLC20A2 Variant, Vertical Supranuclear Gaze Palsy, and Systemic Lupus Erythematosus

Abstract

Diffuse brain calcification (DBC) is characterized by calcification, especially of the basal ganglia, cerebellar dentate nuclei, and centrum semiovale. Etiology can be genetic (primary familial brain calcification; PFBC), symptomatic of a variety of disorders, including rarely systemic lupus erythematosus (SLE), and idiopathic. In PFBC, five genes have been identified to date (four with autosomal-dominant inheritance: SCL20A2, PDGFB, PDGFRB, and XPR1; and one with autosomal-recessive inheritance: MYORG). Clinical features in patients with DBC include cognitive impairment and mood and movement disorders, especially parkinsonism, dystonia, chorea, ataxia, and gait dysfunction. Vertical supranuclear gaze palsy (VSGP) has been reported as rarely associated with DBC. We report on a patient with a history of SLE and progressive neurological symptoms, including parkinsonism, gait ataxia, VSGP, and DBC, found to have an unreported variant in the SLC20A2 gene.