Genetic Conditions > familial idiopathic basal ganglia calcification >

References

These sources were used to develop the Genetics Home Reference condition summary on familial idiopathic basal ganglia calcification.

Dai X, Gao Y, Xu Z, Cui X, Liu J, Li Y, Xu H, Liu M, Wang QK, Liu JY. Identification of a novel genetic locus on chromosome 8p21.1-q11.23 for idiopathic basal ganglia calcification. Am J Med Genet B Neuropsychiatr Genet. 2010 Oct 5;153B(7):1305-10. doi: 10.1002/ajmg.b.31102. PubMed citation
Geschwind DH, Loginov M, Stern JM. Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease). Am J Hum Genet. 1999 Sep;65(3):764-72. PubMed citation
Hsu SC, Sears RL, Lemos RR, Quintáns 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, Dobricić V, Fogel BL, García-Estevez D, Goldman J, Goudreau JL, Hopfer S, Janković M, Jaumà S, Jen JC, Kirdlarp S, Klepper J, Kostić V, Lang AE, Linglart A, Maisenbacher MK, Manyam BV, Mazzoni P, Miedzybrodzka Z, Mitarnun W, Mitchell PB, Mueller J, Novaković 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. Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification. Neurogenetics. 2013 Feb;14(1):11-22. doi: 10.1007/s10048-012-0349-2. Epub 2013 Jan 20. PubMed citation
Manyam BV. What is and what is not 'Fahr's disease'. Parkinsonism Relat Disord. 2005 Mar;11(2):73-80. Review. PubMed citation
Nicolas G, Pottier C, Maltête D, Coutant S, Rovelet-Lecrux A, Legallic S, Rousseau S, Vaschalde Y, Guyant-Maréchal L, Augustin J, Martinaud O, Defebvre L, Krystkowiak P, Pariente J, Clanet M, Labauge P, Ayrignac X, Lefaucheur R, Le Ber I, Frébourg T, Hannequin D, Campion D. Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification. Neurology. 2013 Jan 8;80(2):181-7. doi: 10.1212/WNL.0b013e31827ccf34. Epub 2012 Dec 19. PubMed citation
Oliveira JR, Sobrido MJ, Spiteri E, Hopfer S, Meroni G, Petek E, Baquero M, Geschwind DH. Analysis of candidate genes at the IBGC1 locus associated with idiopathic basal ganglia calcification ("Fahr's disease"). J Mol Neurosci. 2007;33(2):151-4. PubMed citation
Oliveira JR, Spiteri E, Sobrido MJ, Hopfer S, Klepper J, Voit T, Gilbert J, Wszolek ZK, Calne DB, Stoessl AJ, Hutton M, Manyam BV, Boller F, Baquero M, Geschwind DH. Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease). Neurology. 2004 Dec 14;63(11):2165-7. PubMed citation
Saiki M, Saiki S, Sakai K, Matsunari I, Higashi K, Murata KY, Hattori N, Hirose G. Neurological deficits are associated with increased brain calcinosis, hypoperfusion, and hypometabolism in idiopathic basal ganglia calcification. Mov Disord. 2007 May 15;22(7):1027-30. PubMed citation
Shirahama M, Akiyoshi J, Ishitobi Y, Tanaka Y, Tsuru J, Matsushita H, Hanada H, Kodama K. A young woman with visual hallucinations, delusions of persecution and a history of performing arson with possible three-generation Fahr disease. Acta Psychiatr Scand. 2010 Jan;121(1):75-7. doi: 10.1111/j.1600-0447.2009.01423.x. Epub 2009 Jun 12. PubMed citation
Volpato CB, De Grandi A, Buffone E, Facheris M, Gebert U, Schifferle G, Schönhuber R, Hicks A, Pramstaller PP. 2q37 as a susceptibility locus for idiopathic basal ganglia calcification (IBGC) in a large South Tyrolean family. J Mol Neurosci. 2009 Nov;39(3):346-53. doi: 10.1007/s12031-009-9287-3. PubMed citation
Wang C, Li Y, Shi L, Ren J, Patti M, Wang T, de Oliveira JR, Sobrido MJ, Quintáns 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. Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. Nat Genet. 2012 Feb 12;44(3):254-6. doi: 10.1038/ng.1077. PubMed citation


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