KEGG   DISEASE: Familial idiopathic basal ganglia calcificationHelp
Entry
H01574                      Disease                                

Name
Familial idiopathic basal ganglia calcification;
Bilateral striopallidodentate calcinosis (BSPDC);
Fahr disease
Description
Familial idiopathic basal ganglia calcification (IBGC), also known as Fahr disease, is an inherited neurological disorder characterized by symmetric calcification in the basal ganglia and other brain regions, a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures and chronic headache, and normal serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone. The typical age at clinical onset is between 30 and 50 years, and most individuals affected with IBGC are asymptomatic during childhood and young adulthood. The diagnosis of IBGC generally relies on the visualization of bilateral calcification mainly in the basal ganglia by neuroimaging and the absence of metabolic, infectious, toxic, or traumatic causes. Familial IBGC is genetically heterogeneous and typically transmitted in an autosomal dominant fashion. The mutations in SLC20A2 encoding type III sodium-dependent phosphate transporter 2 (PiT-2) are a major cause of familial IBGC. Recently the mutations of PDGFRB encoding platelet-derived growth factor (PDGF) receptor-beta, PDGFB encoding the PDGFR receptor-beta main ligand and XRP1 encoding a retroviral receptor have been reported to cause calcification in the brain.
Category
Nervous system disease
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Neurodegenerative diseases
   H01574  Familial idiopathic basal ganglia calcification
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Movement disorders
   8A00  Parkinsonism
    H01574  Familial idiopathic basal ganglia calcification
BRITE hierarchy
Gene
SLC20A2 [HSA:6575] [KO:K14640]
PDGFRB [HSA:5159] [KO:K05089]
PDGFB [HSA:5155] [KO:K17386]
XPR1 [HSA:9213]
Other DBs
ICD-11: 8A00.1Y
ICD-10: G23.8
MeSH: C536275 C537657 C536276
OMIM: 213600 615007 615483 616413
Reference
  Authors
Wang C, Li Y, Shi L, Ren J, Patti M, Wang T, de Oliveira JR, Sobrido MJ, Quintans B, Baquero M, Cui X, Zhang XY, Wang L, Xu H, Wang J, Yao J, Dai X, Liu J, Zhang L, Ma H, Gao Y, Ma X, Feng S, Liu M, Wang QK, Forster IC, Zhang X, Liu JY
  Title
Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis.
  Journal
Nat Genet 44:254-6 (2012)
DOI:10.1038/ng.1077
Reference
  Authors
Hsu SC, Sears RL, Lemos RR, Quintans B, Huang A, Spiteri E, Nevarez L, Mamah C, Zatz M, Pierce KD, Fullerton JM, Adair JC, Berner JE, Bower M, Brodaty H, Carmona O, Dobricic V, Fogel BL, Garcia-Estevez D, Goldman J, Goudreau JL, Hopfer S, Jankovic M, Jauma S, Jen JC, Kirdlarp S, Klepper J, Kostic V, Lang AE, Linglart A, Maisenbacher MK, Manyam BV, Mazzoni P, Miedzybrodzka Z, Mitarnun W, Mitchell PB, Mueller J, Novakovic I, Paucar M, Paulson H, Simpson SA, Svenningsson P, Tuite P, Vitek J, Wetchaphanphesat S, Williams C, Yang M, Schofield PR, de Oliveira JR, Sobrido MJ, Geschwind DH, Coppola G
  Title
Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification.
  Journal
Neurogenetics 14:11-22 (2013)
DOI:10.1007/s10048-012-0349-2
Reference
  Authors
Yamada M, Tanaka M, Takagi M, Kobayashi S, Taguchi Y, Takashima S, Tanaka K, Touge T, Hatsuta H, Murayama S, Hayashi Y, Kaneko M, Ishiura H, Mitsui J, Atsuta N, Sobue G, Shimozawa N, Inuzuka T, Tsuji S, Hozumi I
  Title
Evaluation of SLC20A2 mutations that cause idiopathic basal ganglia calcification in Japan.
  Journal
Neurology 82:705-12 (2014)
DOI:10.1212/WNL.0000000000000143
Reference
  Authors
Nicolas G, Pottier C, Maltete D, Coutant S, Rovelet-Lecrux A, Legallic S, Rousseau S, Vaschalde Y, Guyant-Marechal L, Augustin J, Martinaud O, Defebvre L, Krystkowiak P, Pariente J, Clanet M, Labauge P, Ayrignac X, Lefaucheur R, Le Ber I, Frebourg T, Hannequin D, Campion D
  Title
Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification.
  Journal
Neurology 80:181-7 (2013)
DOI:10.1212/WNL.0b013e31827ccf34
Reference
  Authors
Keller A, Westenberger A, Sobrido MJ, Garcia-Murias M, Domingo A, Sears RL, Lemos RR, Ordonez-Ugalde A, Nicolas G, da Cunha JE, Rushing EJ, Hugelshofer M, Wurnig MC, Kaech A, Reimann R, Lohmann K, Dobricic V, Carracedo A, Petrovic I, Miyasaki JM, Abakumova I, Mae MA, Raschperger E, Zatz M, Zschiedrich K, Klepper J, Spiteri E, Prieto JM, Navas I, Preuss M, Dering C, Jankovic M, Paucar M, Svenningsson P, Saliminejad K, Khorshid HR, Novakovic I, Aguzzi A, Boss A, Le Ber I, Defer G, Hannequin D, Kostic VS, Campion D, Geschwind DH, Coppola G, Betsholtz C, Klein C, Oliveira JR
  Title
Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice.
  Journal
Nat Genet 45:1077-82 (2013)
DOI:10.1038/ng.2723
Reference
  Authors
Legati A, Giovannini D, Nicolas G, Lopez-Sanchez U, Quintans B, Oliveira JR, Sears RL, Ramos EM, Spiteri E, Sobrido MJ, Carracedo A, Castro-Fernandez C, Cubizolle S, Fogel BL, Goizet C, Jen JC, Kirdlarp S, Lang AE, Miedzybrodzka Z, Mitarnun W, Paucar M, Paulson H, Pariente J, Richard AC, Salins NS, Simpson SA, Striano P, Svenningsson P, Tison F, Unni VK, Vanakker O, Wessels MW, Wetchaphanphesat S, Yang M, Boller F, Campion D, Hannequin D, Sitbon M, Geschwind DH, Battini JL, Coppola G
  Title
Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export.
  Journal
Nat Genet 47:579-81 (2015)
DOI:10.1038/ng.3289

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