title: Brain Calcification and Movement Disorders.
abstract: Brain calcifications may be an incidental finding on neuroimaging in normal, particularly older individuals, but can also indicate numerous hereditary and nonhereditary syndromes, and metabolic, environmental, infectious, autoimmune, mitochondrial, traumatic, or toxic disorders. Bilateral calcifications most commonly affecting the basal ganglia may often be found in idiopathic cases, and a new term, primary familial brain calcification (PFBC), has been proposed that recognizes the genetic causes of the disorder and that calcifications occurred well beyond the basal ganglia. PFBC, usually inherited in an autosomal dominant fashion, is both an intrafamilial and an interfamilial heterogeneous disorder, clinically characterized by an insidious and progressive development of movement disorders, cognitive decline, and psychiatric symptoms, but also cerebellar ataxia, pyramidal signs, and sometimes isolated seizures and headaches/migraines. Heterozygous mutations in four genes (SLC20A2, PDGFRB, PDGFB, XPR1) have recently proved to be the causes of the autosomal dominant forms of PFBC, also suggesting disrupted phosphate homeostasis as "an underlying and converging" pathophysiological mechanism. However, to date, it is not possible to anticipate with acceptable certainty any of known genetic causes of PFBC on the basis of the type, severity, pattern of distribution, or combination of movement disorders (mainly parkinsonism, with or without tremor, but also dystonia, chorea, paroxysmal kinesigenic dyskinesia, orofacial dyskinesia, and gait and speech disorders).
authors.affiliation: Clinic of Neurology, Clinical Centre of Serbia, Faculty of Medicine, University of Belgrade, Dr Subotica 6, Belgrade, 11000, Serbia. vladimir.s.kostic@gmail.com.
authors.forename: Vladimir S
authors.initials: VS
authors.lastname: Kostić
authors.affiliation: Clinic of Neurology, Clinical Centre of Serbia, Faculty of Medicine, University of Belgrade, Dr Subotica 6, Belgrade, 11000, Serbia.
authors.forename: Igor N
authors.initials: IN
authors.lastname: Petrović
mesh_terms: D000818:Animals; D000077214:Becaplermin; D001927:Brain Diseases / Q000503:physiopathology*; D002114:Calcinosis / Q000235:genetics*; D006801:Humans; D009069:Movement Disorders / Q000209:etiology / Q000503:physiopathology*; D009154:Mutation; D020574:Proto-Oncogene Proteins c-sis / Q000235:genetics; D043562:Receptors, G-Protein-Coupled / Q000235:genetics; D011991:Receptors, Virus / Q000235:genetics; D050611:Sodium-Phosphate Cotransporter Proteins, Type III / Q000235:genetics; D000089842:Xenotropic and Polytropic Retrovirus Receptor
chemical_list: D020574:Proto-Oncogene Proteins c-sis; D043562:Receptors, G-Protein-Coupled; D011991:Receptors, Virus; C493589:SLC20A2 protein, human; D050611:Sodium-Phosphate Cotransporter Proteins, Type III; C000715267:XPR1 protein, human; D000089842:Xenotropic and Polytropic Retrovirus Receptor; D000077214:Becaplermin
keywords: Movement disorders; Primary familial brain calcifications; SLC20A2, PDGFRB, PDGFB, XPR1