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Journal of Neurology

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01-03-2016 | Letter to the Editors

Primary familial brain calcification in a Norwegian family, caused by a novel SLC20A2 gene mutation

Authors: Oddveig Røsby, Andrea Legati, Giovanni Coppola

Published in: Journal of Neurology | Issue 3/2016

Excerpt

Dear Sirs, …

Nicolas G, Pottier C, Charbonnier C, Guyant-Maréchal L, Le Ber I, Pariente J, Labauge P, Ayrignac X, Defebvre L, Maltête D, Martinaud O, Lefaucheur R, Guillin O, Wallon D, Chaumette B, Rondepierre P, Derache N, Fromager G, Schaeffer S, Krystkowiak P, Verny C, Jurici S, Sauvée M, Vérin M, Lebouvier T, Rouaud O, Thauvin-Robinet C, Rousseau S, Rovelet-Lecrux A, Frebourg T, Campion D, Hannequin D, French IBGC Study Group (2013) Phenotypic spectrum of probable and genetically confirmed idiopathic basal ganglia calcification. Brain 136:3395–3407CrossRefPubMed

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 (2012) Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. Nat Genet 44:254–256CrossRefPubMed

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 (2013) Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification. Neurology 80:181–187CrossRefPubMed

Keller A, Westenberger A, Sobrido MJ, García-Murias M, Domingo A, Sears RL, Lemos RR, Ordoñez-Ugalde A, Nicolas G, da Cunha JE, Rushing EJ, Hugelshofer M, Wurnig MC, Kaech A, Reimann R, Lohmann K, Dobričić V, Carracedo A, Petrović I, Miyasaki JM, Abakumova I, Mäe MA, Raschperger E, Zatz M, Zschiedrich K, Klepper J, Spiteri E, Prieto JM, Navas I, Preuss M, Dering C, Janković M, Paucar M, Svenningsson P, Saliminejad K, Khorshid HR, Novaković I, Aguzzi A, Boss A, Le Ber I, Defer G, Hannequin D, Kostić VS, Campion D, Geschwind DH, Coppola G, Betsholtz C, Klein C, Oliveira JR (2013) Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice. Nat Genet 45:1077–1082CrossRefPubMed

Legati A, Giovannini D, Nicolas G, López-Sánchez U, Quintáns B, Oliveira JRM, Sears RL, Ramos EM, Spiteri E, Sobrido M-J, Carracedo Á, Castro-Fernández C, Cubizolle S, Fogel BL, Goizet C, Jen JC, Kirdlarp S, Lang AE, Miedzybrodzka Z, Mitarnum W, Paucar M, Paulson H, Pariente J, Richard A-C, Salins N S, 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 J-L, Coppola G (2015) Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export. Nat Genet 47(6):579–581. doi:10.1038/ng.3289 [Epub 2015 May 4]

Nicolas G, Richard A-C, Pottier C, Verny C, Durif F, Roze E, Favrole P, Rudolf G, Anheim M, Tranchant C, Frebourg T, Campion D, Hannequin D (2014) Overall mutational spectrum of SLC20A2, PDGFB and PDGFRB in idiopathic basal ganglia calcification. Neurogenetics 15:215–216CrossRefPubMed

Oliveira DF, Lemos RR, Oliveira JRM (2013) Mutations at the SLC20A2 gene and brain resilience in families with idiopathic basal ganglia calcification (“Fahr’s disease”). Front Hum Neurosci 7:420PubMedPubMedCentral

Title: Primary familial brain calcification in a Norwegian family, caused by a novel SLC20A2 gene mutation
Authors: Oddveig Røsby
Andrea Legati
Giovanni Coppola
Publication date: 01-03-2016
Publisher: Springer Berlin Heidelberg
Published in: Journal of Neurology / Issue 3/2016
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-016-8033-3

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