Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification

Neurology

Volumn 80, Issue 2, 2013, Pages 181-187

  Nicolas, Gaël ^a,b   Pottier, Cyril ^a,b   Maltête, David ^a,b   Coutant, Sophie ^a,b   Rovelet Lecrux, Anne ^a,b   Legallic, Solenn ^b   Rousseau, Stéphane ^b   Vaschalde, Yvan ^c   Guyant Maréchal, Lucie ^b   Augustin, Jérôme ^b   Martinaud, Olivier ^b   Defebvre, Luc ^d   Krystkowiak, Pierre ^e   Pariente, Jérémie ^f   Clanet, Michel ^f   Labauge, Pierre ^g   Ayrignac, Xavier ^g   Lefaucheur, Romain ^b   Ber, Isabelle Le ^h   Frébourg, Thierry ^a   Hannequin, Didier ^a,b   Campion, Dominique ^a,b,i   more..

^a INSERM   (France)

^b ROUEN UNIVERSITY HOSPITAL   (France)

^c LE HAVRE HOSPITAL   (France)

^d LILLE UNIVERSITY HOSPITAL   (France)

^e AMIENS UNIVERSITY HOSPITAL   (France)

^f CHU PURPAN   (France)

^g MONTPELLIER UNIVERSITY HOSPITAL   (France)

^h PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

ⁱ Rouvray Psychiatric Hospital   (France)

Author keywords

[No Author keywords available]

Indexed keywords

PHOSPHATE; PLATELET DERIVED GROWTH FACTOR; PLATELET DERIVED GROWTH FACTOR RECEPTOR; TRANSCRIPTION FACTOR PIT 1;

ADULT; AGED; ANGIOGENESIS; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DONOR SITE; EXOME; FAHR DISEASE; FAMILIAL DISEASE; FAMILY; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GENETIC DISORDER; GENETIC SCREENING; GENETIC VARIABILITY; HAPLOTYPE MAP; HUMAN; IDIOPATHIC BASAL GANGLIA CALCIFICATION; IDIOPATHIC DISEASE; INDEL MUTATION; MALE; PHOSPHATE TRANSPORT; PRIORITY JOURNAL; RELATIVE; RNA SPLICING; VASCULAR SMOOTH MUSCLE;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARGININE; BASAL GANGLIA DISEASES; CALCINOSIS; CHILD; DATABASES, GENETIC; EXOME; FEMALE; HUMANS; LEUCINE; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUTATION; NEUROLOGIC EXAMINATION; PARKINSON DISEASE; PEDIGREE; POLYMERASE CHAIN REACTION; PROLINE; RECEPTOR, PLATELET-DERIVED GROWTH FACTOR BETA; TOMOGRAPHY, X-RAY COMPUTED; TRYPTOPHAN;

EID: 84873693930     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e31827ccf34     Document Type: Article

References (34)

1. Manyam BV. What is and what is not 'Fahr's disease.' Parkinsonism Relat Disord 2005;11:73-80.
2. 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;65:764-772. (Pubitemid 30468722)
3. Brodaty H, Mitchell P, Luscombe G, et al. Familial idiopathic basal ganglia calcification (Fahr's disease) without neurological, cognitive and psychiatric symptoms is not linked to the IBGC1 locus on chromosome 14q. Hum Genet 2002;110:8-14. (Pubitemid 36067411)
4. Oliveira JR, Spiteri E, Sobrido MJ, et al. Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease). Neurology 2004;63:2165-2167. (Pubitemid 39636274)
5. Volpato CB, De Grandi A, Buffone E, et al. Exclusion of linkage to chromosome 14q in a large South Tyrolean family with idiopathic basal ganglia calcification (IBGC). Am J Med Genet B Neuropsychiatr Genet 2008;147B:1319-1322.
6. Volpato CB, De Grandi A, Buffone E, et al. 2q37 as a susceptibility locus for idiopathic basal ganglia calcification (IBGC) in a large South Tyrolean family. J Mol Neurosci 2009;39:346-353.
7. Dai X, Gao Y, Xu Z, et al. 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;153B:1305-1310.
8. Kostic VS, Lukic-Jecmenica M, Novakovic I, et al. Exclusion of linkage to chromosomes 14q, 2q37 and 8p21.1-q11.23 in a Serbian family with idiopathic basal ganglia calcification. J Neurol 2011;258:1637-1642.
9. Wang C, Li Y, Shi L, et al. Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. Nat Genet 2012;44:254-256.
10. Kiroglu Y, Calli C, Karabulut N, Oncel C. Intracranial calcifications on CT. Diagn Interv Radiol 2010;16:263-269.
11. Simoni M, Pantoni L, Pracucci G, et al. Prevalence of CT-detected cerebral abnormalities in an elderly Swedish population sample. Acta Neurol Scand 2008;118:260-267.
12. Fredriksson L, Li H, Eriksson U. The PDGF family: four gene products form five dimeric isoforms. Cytokine Growth Factor Rev 2004;15:197-204. (Pubitemid 38781045)
13. Tallquist MD, Klinghoffer RA, Heuchel R, et al. Retention of PDGFR-beta function in mice in the absence of phosphatidylinositol 3'-kinase and phospholipase Cgamma signaling pathways. Genes Dev 2000;14:3179-3190. (Pubitemid 32015135)
14. Duckett S, Galle P, Escourolle R, Poirier J, Hauw JJ. Presence of zinc, aluminum, magnesium in striopalledodentate (SPD) calcifications (Fahr's disease): electron probe study. Acta Neuropathol 1977;38:7-10. (Pubitemid 8108005)
15. Kobayashi S, Yamadori I, Miki H, Ohmori M. Idiopathic nonarteriosclerotic cerebral calcification (Fahr's disease): an electron microscopic study. Acta Neuropathol 1987;73:62-66. (Pubitemid 17046135)
16. Warren JD, Kimber TE, Blumbergs PC, Thompson PD. Eighty-nine-year-old man with generalised chorea and basal ganglia mineralization. Mov Disord 2001;16:362-363. (Pubitemid 36049988)
17. Miklossy J, Mackenzie IR, Dorovini-Zis K, et al. Severe vascular disturbance in a case of familial brain calcinosis. Acta Neuropathol 2005;109:643-653. (Pubitemid 40974154)
18. Lindahl P, Johansson BR, Leveen P, Betsholtz C. Pericyte loss and microaneurysm formation in PDGF-B-deficient mice. Science 1997;277:242-245. (Pubitemid 27446080)
19. Hutchins JB, Jefferson VE. Developmental distribution of platelet-derived growth factor in the mouse central nervous system. Brain Res Dev Brain Res 1992;67:121-135.
20. Ishii Y, Oya T, Zheng L, et al. Mouse brains deficient in neuronal PDGF receptor-beta develop normally but are vulnerable to injury. J Neurochem 2006;98:588-600. (Pubitemid 44133161)
21. Soriano P. Abnormal kidney development and hematolog-ical disorders in PDGF beta-receptor mutant mice. Genes Dev 1994;8:1888-1896.
22. Leveen P, Pekny M, Gebre-Medhin S, Swolin B, Larsson E, Betsholtz C. Mice deficient for PDGF B show renal, cardiovascular, and hematological abnormalities. Genes Dev 1994;8:1875-1887. (Pubitemid 24273888)
23. Tallquist MD, French WJ, Soriano P. Additive effects of PDGF receptor beta signaling pathways in vascular smooth muscle cell development. PLoS Biol 2003;1: E52.
24. Hellstrom M, Gerhardt H, Kalen M, et al. Lack of pericytes leads to endothelial hyperplasia and abnormal vascular morphogenesis. J Cell Biol 2001;153:543-553. (Pubitemid 34280141)
25. Daneman R, Zhou L, Kebede AA, Barres BA. Pericytes are required for blood-brain barrier integrity during embryo-genesis. Nature 2010;468:562-566.
26. Armulik A, Genove G, Mae M, et al. Pericytes regulate the blood-brain barrier. Nature 2010;468:557-561.
27. Casanova MF, Araque JM. Mineralization of the basal ganglia: implications for neuropsychiatry, pathology and neuroimaging. Psychiatry Res 2003;121:59-87. (Pubitemid 37311388)
28. Diliberto PA, Gordon G, Herman B. Regional and mechanistic differences in platelet-derived growth factor-isoform-induced alterations in cytosolic free calcium in porcine vascular smooth muscle cells. J Biol Chem 1991;266:12612-12617. (Pubitemid 21907139)
29. Lapidot SA, Phair RD. Platelet-derived growth factor causes sustained depletion of both inositol trisphosphate-sensitive and caffeine-sensitive intracellular calcium stores in vascular smooth muscle cells. Arterioscler Thromb Vasc Biol 1995;15:44-51.
30. Giachelli CM, Jono S, Shioi A, Nishizawa Y, Mori K, Morii H. Vascular calcification and inorganic phosphate. Am J Kidney Dis 2001;38(4 suppl 1):S34-S37. (Pubitemid 32927609)
31. Villa-Bellosta R, Levi M, Sorribas V. Vascular smooth muscle cell calcification and SLC20 inorganic phosphate transporters: effects of PDGF, TNF-alpha, and Pi. Pflugers Arch 2009;458:1151-1161.
32. Kakita A, Suzuki A, Nishiwaki K, et al. Stimulation of Na-dependent phosphate transport by platelet-derived growth factor in rat aortic smooth muscle cells. Atherosclerosis 2004;174:17-24. (Pubitemid 38595435)
33. Lau WL, Festing MH, Giachelli CM. Phosphate and vascular calcification: emerging role of the sodium-dependent phosphate co-transporter PiT-1. Thromb Haemost 2010; 104:464-470.
34. Li X, Yang HY, Giachelli CM. Role of the sodium-dependent phosphate cotransporter, Pit-1, in vascular smooth muscle cell calcification. Circ Res 2006;98:905-912.