Familial idiopathic basal ganglia calcification

Definition:

Familial idiopathic basal ganglia calcification (IBGC), also known as Fahr disease, is an inherited neurological disorder characterized by symmetrical calcification of cerebral structures lacking known metabolic causes such as calcium or phosphorus homeostasis disorders. Currently, autosomal dominant and recessive causative genes have been identified.

References:

[1]. Andrea Legati, et al. Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export. Nat Genet. 2015 Jun;47(6):579-81. [Content Brief]

[2]. Annika Keller, et al. Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice. Nat Genet. 2013 Sep;45(9):1077-82. [Content Brief]

[3]. Cheng Wang, et al. Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. Nat Genet. 2012 Feb 12;44(3):254-6. [Content Brief]

[4]. David Arkadir, et al. MYORG is associated with recessive primary familial brain calcification. Ann Clin Transl Neurol. 2018 Nov 15;6(1):106-113. [Content Brief]

[5]. Gaël Nicolas, et al. Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification. Neurology. 2013 Jan 8;80(2):181-7. [Content Brief]

[6]. Lucia V Schottlaender, et al. Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification. Am J Hum Genet. 2020 Mar 5;106(3):412-421. [Content Brief]

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