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==== Idiopathic and familial basal ganglia calcification ====
==== Idiopathic and familial basal ganglia calcification ====
Accumulation of [[calcium]] in some [[brain]] regions and the [[basal ganglia]] is known as [[idiopathic basal ganglia calcification]] or bilateral striatopallidodentate calcinosis. Some of these patients can have [[parkinsonism]] symptoms such as [[dystonia]], [[ataxia]] and [[chorea]] mostly between ages 20_60.<ref name="pmid24065723">{{cite journal |vauthors=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 |title=Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification |journal=Brain |volume=136 |issue=Pt 11 |pages=3395–407 |date=November 2013 |pmid=24065723 |doi=10.1093/brain/awt255 |url=}}</ref><ref name="pmid2927646">{{cite journal |vauthors=Ellie E, Julien J, Ferrer X |title=Familial idiopathic striopallidodentate calcifications |journal=Neurology |volume=39 |issue=3 |pages=381–5 |date=March 1989 |pmid=2927646 |doi= |url=}}</ref> The [[autosomal dominant]] form of the disease which is known as familial form<ref name="pmid25686319">{{cite journal |vauthors=Tadic V, Westenberger A, Domingo A, Alvarez-Fischer D, Klein C, Kasten M |title=Primary familial brain calcification with known gene mutations: a systematic review and challenges of phenotypic characterization |journal=JAMA Neurol |volume=72 |issue=4 |pages=460–7 |date=April 2015 |pmid=25686319 |doi=10.1001/jamaneurol.2014.3889 |url=}}</ref> can be the result of several [[mutations]] such as: The [[SLC20A2]] gene on [[chromosome]] 8p11.2<ref name="pmid22327515">{{cite journal |vauthors=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 |title=Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis |journal=Nat. Genet. |volume=44 |issue=3 |pages=254–6 |date=February 2012 |pmid=22327515 |doi=10.1038/ng.1077 |url=}}</ref>, the [[PDGFRB]] gene on [[chromosome]] 5q32<ref name="pmid23255827">{{cite journal |vauthors=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 |title=Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification |journal=Neurology |volume=80 |issue=2 |pages=181–7 |date=January 2013 |pmid=23255827 |doi=10.1212/WNL.0b013e31827ccf34 |url=}}</ref>, the [[PDGFB]] gene on [[chromosome]] 22q13.1<ref name="pmid23913003">{{cite journal |vauthors=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 |title=Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice |journal=Nat. Genet. |volume=45 |issue=9 |pages=1077–82 |date=September 2013 |pmid=23913003 |doi=10.1038/ng.2723 |url=}}</ref><ref name="pmid25832657">{{cite journal |vauthors=Keogh MJ, Pyle A, Daud D, Griffin H, Douroudis K, Eglon G, Miller J, Horvath R, Chinnery PF |title=Clinical heterogeneity of primary familial brain calcification due to a novel mutation in PDGFB |journal=Neurology |volume=84 |issue=17 |pages=1818–20 |date=April 2015 |pmid=25832657 |pmc=4424129 |doi=10.1212/WNL.0000000000001517 |url=}}</ref> and the XPR1 gene on [[chromosome]] 1q25.3.<ref name="pmid25938945">{{cite journal |vauthors=Legati A, Giovannini D, Nicolas G, López-Sánchez U, Quintáns B, Oliveira JR, Sears RL, Ramos EM, Spiteri E, Sobrido MJ, Carracedo Á, Castro-Fernández C, Cubizolle S, Fogel BL, Goizet C, Jen JC, Kirdlarp S, Lang AE, Miedzybrodzka Z, Mitarnun W, Paucar M, Paulson H, Pariente J, Richard AC, Salins NS, 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 JL, Coppola G |title=Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export |journal=Nat. Genet. |volume=47 |issue=6 |pages=579–81 |date=June 2015 |pmid=25938945 |pmc=4516721 |doi=10.1038/ng.3289 |url=}}</ref>
Accumulation of [[calcium]] in some [[brain]] regions and the [[basal ganglia]] is known as [[idiopathic basal ganglia calcification]] or bilateral striatopallidodentate calcinosis. Some of these patients can have [[parkinsonism]] symptoms such as [[dystonia]], [[ataxia]] and [[chorea]] mostly between ages 20_60.<ref name="pmid24065723">{{cite journal |vauthors=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 |title=Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification |journal=Brain |volume=136 |issue=Pt 11 |pages=3395–407 |date=November 2013 |pmid=24065723 |doi=10.1093/brain/awt255 |url=}}</ref><ref name="pmid2927646">{{cite journal |vauthors=Ellie E, Julien J, Ferrer X |title=Familial idiopathic striopallidodentate calcifications |journal=Neurology |volume=39 |issue=3 |pages=381–5 |date=March 1989 |pmid=2927646 |doi= |url=}}</ref> The [[autosomal dominant]] form of the disease which is known as familial form<ref name="pmid25686319">{{cite journal |vauthors=Tadic V, Westenberger A, Domingo A, Alvarez-Fischer D, Klein C, Kasten M |title=Primary familial brain calcification with known gene mutations: a systematic review and challenges of phenotypic characterization |journal=JAMA Neurol |volume=72 |issue=4 |pages=460–7 |date=April 2015 |pmid=25686319 |doi=10.1001/jamaneurol.2014.3889 |url=}}</ref> can be the result of several [[mutations]] such as: The [[SLC20A2]] gene on [[chromosome]] 8p11.2<ref name="pmid22327515">{{cite journal |vauthors=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 |title=Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis |journal=Nat. Genet. |volume=44 |issue=3 |pages=254–6 |date=February 2012 |pmid=22327515 |doi=10.1038/ng.1077 |url=}}</ref>, the [[PDGFRB]] gene on [[chromosome]] 5q32<ref name="pmid23255827">{{cite journal |vauthors=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 |title=Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification |journal=Neurology |volume=80 |issue=2 |pages=181–7 |date=January 2013 |pmid=23255827 |doi=10.1212/WNL.0b013e31827ccf34 |url=}}</ref>, the [[PDGFB]] gene on [[chromosome]] 22q13.1<ref name="pmid23913003">{{cite journal |vauthors=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 |title=Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice |journal=Nat. Genet. |volume=45 |issue=9 |pages=1077–82 |date=September 2013 |pmid=23913003 |doi=10.1038/ng.2723 |url=}}</ref><ref name="pmid25832657">{{cite journal |vauthors=Keogh MJ, Pyle A, Daud D, Griffin H, Douroudis K, Eglon G, Miller J, Horvath R, Chinnery PF |title=Clinical heterogeneity of primary familial brain calcification due to a novel mutation in PDGFB |journal=Neurology |volume=84 |issue=17 |pages=1818–20 |date=April 2015 |pmid=25832657 |pmc=4424129 |doi=10.1212/WNL.0000000000001517 |url=}}</ref> and the XPR1 gene on [[chromosome]] 1q25.3.<ref name="pmid25938945">{{cite journal |vauthors=Legati A, Giovannini D, Nicolas G, López-Sánchez U, Quintáns B, Oliveira JR, Sears RL, Ramos EM, Spiteri E, Sobrido MJ, Carracedo Á, Castro-Fernández C, Cubizolle S, Fogel BL, Goizet C, Jen JC, Kirdlarp S, Lang AE, Miedzybrodzka Z, Mitarnun W, Paucar M, Paulson H, Pariente J, Richard AC, Salins NS, 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 JL, Coppola G |title=Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export |journal=Nat. Genet. |volume=47 |issue=6 |pages=579–81 |date=June 2015 |pmid=25938945 |pmc=4516721 |doi=10.1038/ng.3289 |url=}}</ref>
==== Other neurodegenerative disorders ====


==== Secondary parkinsonism ====
==== Secondary parkinsonism ====

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Overview

Differential Diagnosis

Parkinson disease must be differentiated from other diseases that can mimic this disease clinically or radiologically such as:

Essential tremor

Essential tremor is demonstrated by bilateral resting tremor of arms, head, chin and trunk. Tremor of PD is action tremor and it seems to be easy to differentiate it from resting tremor of ET but sometimes we can see resting tremor in PD patient and conversely action tremor in ET patients.[1][2]

Scans without evidence of dopaminergic deficit (SWEDD)

Patients with scans without evidence of dopaminergic deficit have upper extremity resting tremor but their disease does not progress to the complete PD and there are no evidence of dopamine depletion in their NS.[3]

Dementia with Lewy bodies

Dementia will finally occurs in the most cases of Parkinson disease but the timing of dementia in PD is after full developing of PD and mostly after at least one year of disease start date. When dementia occurs with or before the signs and symptoms of Parkinson disease we will categorize it as dementia with lewy body.[4][5]

Multiple system atrophy

MSA is an idiopathic disease[6] characterized by autonomic problems such as urogenital dysfunction, ataxia and parkinsonism symptoms.[7] MSA patients have resting tremor in arms, rigidity and bradykinesia.[8] The underlying pathophysiology of MSA is myelin dysfunction and inclusions in glial cell throughout CNS.[6][9]

Corticobasal degeneration

Clinical features of CBD is asymmetric movement disorders including rigidity, akinesia and dystonia.[10][11][12] cognitive disorder is very common in this disease and can be the presenting sign of it.[13][14] there are evidences of asymmetric frontoparietal cortical atrophy in autopsy in CBD patients. In microscopic evaluation there are neuronal loss, ballooned achromatic and gliosis.[15][16]

Progressive supranuclear palsy

Abnormal gait is the most common presentation of PSP disease. As opposed to idiopathic Parkinson disease, their trunk is extended and arms are abducted. They commonly fall from behind leading to bruises and lacerations.[17] They can also have supranuclear ophthalmoparesis or ophtalmoplegia.[18]

Idiopathic and familial basal ganglia calcification

Accumulation of calcium in some brain regions and the basal ganglia is known as idiopathic basal ganglia calcification or bilateral striatopallidodentate calcinosis. Some of these patients can have parkinsonism symptoms such as dystonia, ataxia and chorea mostly between ages 20_60.[19][20] The autosomal dominant form of the disease which is known as familial form[21] can be the result of several mutations such as: The SLC20A2 gene on chromosome 8p11.2[22], the PDGFRB gene on chromosome 5q32[23], the PDGFB gene on chromosome 22q13.1[24][25] and the XPR1 gene on chromosome 1q25.3.[26]

Secondary parkinsonism

References

  1. Jankovic J, Schwartz KS, Ondo W (November 1999). "Re-emergent tremor of Parkinson's disease". J. Neurol. Neurosurg. Psychiatry. 67 (5): 646–50. PMC 1736624. PMID 10519872.
  2. Louis ED, Levy G, Côte LJ, Mejia H, Fahn S, Marder K (October 2001). "Clinical correlates of action tremor in Parkinson disease". Arch. Neurol. 58 (10): 1630–4. PMID 11594921.
  3. Schneider SA, Edwards MJ, Mir P, Cordivari C, Hooker J, Dickson J, Quinn N, Bhatia KP (November 2007). "Patients with adult-onset dystonic tremor resembling parkinsonian tremor have scans without evidence of dopaminergic deficit (SWEDDs)". Mov. Disord. 22 (15): 2210–5. doi:10.1002/mds.21685. PMID 17712858.
  4. McKeith IG, Boeve BF, Dickson DW, Halliday G, Taylor JP, Weintraub D, Aarsland D, Galvin J, Attems J, Ballard CG, Bayston A, Beach TG, Blanc F, Bohnen N, Bonanni L, Bras J, Brundin P, Burn D, Chen-Plotkin A, Duda JE, El-Agnaf O, Feldman H, Ferman TJ, Ffytche D, Fujishiro H, Galasko D, Goldman JG, Gomperts SN, Graff-Radford NR, Honig LS, Iranzo A, Kantarci K, Kaufer D, Kukull W, Lee V, Leverenz JB, Lewis S, Lippa C, Lunde A, Masellis M, Masliah E, McLean P, Mollenhauer B, Montine TJ, Moreno E, Mori E, Murray M, O'Brien JT, Orimo S, Postuma RB, Ramaswamy S, Ross OA, Salmon DP, Singleton A, Taylor A, Thomas A, Tiraboschi P, Toledo JB, Trojanowski JQ, Tsuang D, Walker Z, Yamada M, Kosaka K (July 2017). "Diagnosis and management of dementia with Lewy bodies: Fourth consensus report of the DLB Consortium". Neurology. 89 (1): 88–100. doi:10.1212/WNL.0000000000004058. PMC 5496518. PMID 28592453. Vancouver style error: initials (help)
  5. Boeve BF, Dickson DW, Duda JE, Ferman TJ, Galasko DR, Galvin JE, Goldman JG, Growdon JH, Hurtig HI, Kaufer DI, Kantarci K, Leverenz JB, Lippa CF, Lopez OL, McKeith IG, Singleton AB, Taylor A, Tsuang D, Weintraub D, Zabetian CP (November 2016). "Arguing against the proposed definition changes of PD". Mov. Disord. 31 (11): 1619–1622. doi:10.1002/mds.26721. PMC 5168716. PMID 27492190.
  6. 6.0 6.1 Wenning GK, Stefanova N, Jellinger KA, Poewe W, Schlossmacher MG (September 2008). "Multiple system atrophy: a primary oligodendrogliopathy". Ann. Neurol. 64 (3): 239–46. doi:10.1002/ana.21465. PMID 18825660.
  7. Stefanova N, Bücke P, Duerr S, Wenning GK (December 2009). "Multiple system atrophy: an update". Lancet Neurol. 8 (12): 1172–8. doi:10.1016/S1474-4422(09)70288-1. PMID 19909915.
  8. Geser F, Seppi K, Stampfer-Kountchev M, Köllensperger M, Diem A, Ndayisaba JP, Ostergaard K, Dupont E, Cardozo A, Tolosa E, Abele M, Dodel R, Klockgether T, Ghorayeb I, Yekhlef F, Tison F, Daniels C, Kopper F, Deuschl G, Coelho M, Ferreira J, Rosa MM, Sampaio C, Bozi M, Schrag A, Hooker J, Kim H, Scaravilli T, Mathias CJ, Fowler C, Wood N, Quinn N, Widner H, Nilsson CF, Lindvall O, Schimke N, Eggert KM, Oertel W, del Sorbo F, Carella F, Albanese A, Pellecchia MT, Barone P, Djaldetti R, Meco G, Colosimo C, Gonzalez-Mandly A, Berciano J, Gurevich T, Giladi N, Galitzky M, Ory F, Rascol O, Kamm C, Buerk K, Maass S, Gasser T, Poewe W, Wenning GK (December 2005). "The European Multiple System Atrophy-Study Group (EMSA-SG)". J Neural Transm (Vienna). 112 (12): 1677–86. doi:10.1007/s00702-005-0328-y. PMID 16049636.
  9. Matsuo A, Akiguchi I, Lee GC, McGeer EG, McGeer PL, Kimura J (September 1998). "Myelin degeneration in multiple system atrophy detected by unique antibodies". Am. J. Pathol. 153 (3): 735–44. doi:10.1016/S0002-9440(10)65617-9. PMC 1853025. PMID 9736024.
  10. Rebeiz JJ, Kolodny EH, Richardson EP (January 1968). "Corticodentatonigral degeneration with neuronal achromasia". Arch. Neurol. 18 (1): 20–33. PMID 5634369.
  11. Wenning GK, Litvan I, Jankovic J, Granata R, Mangone CA, McKee A, Poewe W, Jellinger K, Ray Chaudhuri K, D'Olhaberriague L, Pearce RK (February 1998). "Natural history and survival of 14 patients with corticobasal degeneration confirmed at postmortem examination". J. Neurol. Neurosurg. Psychiatry. 64 (2): 184–9. PMC 2169933. PMID 9489528.
  12. Riley DE, Lang AE, Lewis A, Resch L, Ashby P, Hornykiewicz O, Black S (August 1990). "Cortical-basal ganglionic degeneration". Neurology. 40 (8): 1203–12. PMID 2381527.
  13. Murray R, Neumann M, Forman MS, Farmer J, Massimo L, Rice A, Miller BL, Johnson JK, Clark CM, Hurtig HI, Gorno-Tempini ML, Lee VM, Trojanowski JQ, Grossman M (April 2007). "Cognitive and motor assessment in autopsy-proven corticobasal degeneration". Neurology. 68 (16): 1274–83. doi:10.1212/01.wnl.0000259519.78480.c3. PMID 17438218.
  14. Graham NL, Bak TH, Hodges JR (November 2003). "Corticobasal degeneration as a cognitive disorder". Mov. Disord. 18 (11): 1224–32. doi:10.1002/mds.10536. PMID 14639661.
  15. Schneider JA, Watts RL, Gearing M, Brewer RP, Mirra SS (April 1997). "Corticobasal degeneration: neuropathologic and clinical heterogeneity". Neurology. 48 (4): 959–69. PMID 9109885.
  16. Boeve BF, Maraganore DM, Parisi JE, Ahlskog JE, Graff-Radford N, Caselli RJ, Dickson DW, Kokmen E, Petersen RC (September 1999). "Pathologic heterogeneity in clinically diagnosed corticobasal degeneration". Neurology. 53 (4): 795–800. PMID 10489043.
  17. Boeve BF (January 2012). "Progressive supranuclear palsy". Parkinsonism Relat. Disord. 18 Suppl 1: S192–4. doi:10.1016/S1353-8020(11)70060-8. PMID 22166432.
  18. Litvan I, Mangone CA, McKee A, Verny M, Parsa A, Jellinger K, D'Olhaberriague L, Chaudhuri KR, Pearce RK (June 1996). "Natural history of progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome) and clinical predictors of survival: a clinicopathological study". J. Neurol. Neurosurg. Psychiatry. 60 (6): 615–20. PMC 1073943. PMID 8648326.
  19. 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 (November 2013). "Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification". Brain. 136 (Pt 11): 3395–407. doi:10.1093/brain/awt255. PMID 24065723.
  20. Ellie E, Julien J, Ferrer X (March 1989). "Familial idiopathic striopallidodentate calcifications". Neurology. 39 (3): 381–5. PMID 2927646.
  21. Tadic V, Westenberger A, Domingo A, Alvarez-Fischer D, Klein C, Kasten M (April 2015). "Primary familial brain calcification with known gene mutations: a systematic review and challenges of phenotypic characterization". JAMA Neurol. 72 (4): 460–7. doi:10.1001/jamaneurol.2014.3889. PMID 25686319.
  22. 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 (February 2012). "Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis". Nat. Genet. 44 (3): 254–6. doi:10.1038/ng.1077. PMID 22327515.
  23. 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 (January 2013). "Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification". Neurology. 80 (2): 181–7. doi:10.1212/WNL.0b013e31827ccf34. PMID 23255827.
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