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Journal of Neurology

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01-01-2014 | Letter to the Editors

A Japanese family with idiopathic basal ganglia calcification with novel SLC20A2 mutation presenting with late-onset hallucination and delusion

Authors: Kensaku Kasuga, Takuya Konno, Kento Saito, Ayako Ishihara, Masatoyo Nishizawa, Takeshi Ikeuchi

Published in: Journal of Neurology | Issue 1/2014

Excerpt

Dear Sirs, …

Manyam BV (2005) What is and what is not ‘Fahr’s disease’. Parkinsonism Relat Disord 11:73–80CrossRefPubMed

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

Zhang Y, Guo X, Wu A (2013) Association between a novel mutation in SLC20A2 and familial idiopathic basal ganglia calcification. PLoS One 8:e57060PubMedCentralCrossRefPubMed

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

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

Bottger P, Pedersen L (2011) Mapping of the minimal inorganic phosphate transporting unit of human PiT2 suggests a structure universal to PiT-related proteins from all kingdoms of life. BMC Biochem 12:21PubMedCentralCrossRefPubMed

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 (2013) Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification. Neurogenetics 14:11–22PubMedCentralCrossRefPubMed

Chen WJ, Yao XP, Zhang QJ, Ni W, He J, Li HF, Liu XY, Zhao GX, Murong SX, Wang N, Wu ZY (2013) Novel SLC20A2 mutations identified in southern Chinese patients with idiopathic basal ganglia calcification. Gene 529:159–162CrossRefPubMed

da Silva RJ, Pereira IC, Oliveira JR (2013) Analysis of gene expression pattern and neuroanatomical correlates for SLC20A2 (PiT-2) shows a molecular network with potential impact in idiopathic basal ganglia calcification (“Fahr’s disease”). J Mol Neurosci 50:280–283CrossRefPubMed

10.

Manyam BV, Walters AS, Narla KR (2001) Bilateral striopallidodentate calcinosis: clinical characteristics of patients seen in a registry. Mov Disord 16:258–264CrossRefPubMed

Title: A Japanese family with idiopathic basal ganglia calcification with novel SLC20A2 mutation presenting with late-onset hallucination and delusion
Authors: Kensaku Kasuga
Takuya Konno
Kento Saito
Ayako Ishihara
Masatoyo Nishizawa
Takeshi Ikeuchi
Publication date: 01-01-2014
Publisher: Springer Berlin Heidelberg
Published in: Journal of Neurology / Issue 1/2014
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-013-7205-7

2024 ASCO Annual Meeting

Springer Medicine

A Japanese family with idiopathic basal ganglia calcification with novel SLC20A2 mutation presenting with late-onset hallucination and delusion

Excerpt

2024 ASCO Annual Meeting

Springer Medicine

Excerpt

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