Mechanisms of calcification in Fahr disease and exposure of potential therapeutic targets
Melissa E.M. Peters, E. Brouwer, Jonas W. Bartstra, Willem P.Th.M. Mali, Huiberdina L. Koek, Annemieke J.M. Rozemüller, Annette F. Baas, Pim A. de Jong
Abstract
PURPOSE OF REVIEW: There is growing interest in disorders involved in ectopic mineralization. Fahr disease or idiopathic basal ganglia calcification can serve as a model for ectopic mineralization in the basal ganglia, which is fairly common in the general population. In this review, we will focus on causative gene mutations and corresponding pathophysiologic pathways in Fahr disease. RECENT FINDINGS: gene has recently been discovered to be involved in the autosomal recessive inheritance of Fahr. SUMMARY: Knowledge about the mutations and corresponding pathways may expose therapeutic opportunities for patients with Fahr disease and vascular calcifications in the brain in general.