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

Journal of Neurology

Volumn 261, Issue 1, 2014, Pages 242-244

  Kasuga, Kensaku ^a   Konno, Takuya ^a   Saito, Kento ^a   Ishihara, Ayako ^a   Nishizawa, Masatoyo ^a   Ikeuchi, Takeshi ^a  

^a NIIGATA UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

AGED; BASAL GANGLIA DISEASES; CALCINOSIS; DELUSIONS; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; HALLUCINATIONS; HUMANS; JAPAN; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; SODIUM-PHOSPHATE COTRANSPORTER PROTEINS, TYPE III;

EID: 84895076787     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-013-7205-7     Document Type: Letter

References (10)

1. Manyam BV (2005) What is and what is not 'Fahr's disease'. Parkinsonism Relat Disord 11:73-80
2. 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 44:254-256
3. Zhang Y, Guo X, Wu A (2013) Association between a novel mutation in SLC20A2 and familial idiopathic basal ganglia calcification. PLoS One 8:e57060
4. 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 136:3395-3407
5. 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 45:1077-1082
6. 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 12:21
7. 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 14:11-22
8. 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 529:159-162
9. 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 50:280-283
10. Manyam BV, Walters AS, Narla KR (2001) Bilateral striopallidodentate calcinosis: clinical characteristics of patients seen in a registry. Mov Disord 16:258-264