Fahr Beyond

Supporting research into Fahr's Disease

Research

Fahr’s Reference List


Anheim, M., Lopez-Sanchez, U., Giovannini, D., Richard, A., Touhami, J., N’Guen, L., Rudolf, G., Thibailt-Stoll, A., Frebourg, T., Hannequin D., Campion D., Battini, J., Sitbon, M., Nicolas, G. (2016) XPR1 mutations are a rare cause of primary familial brain calcification. Journal of Neurology. 263. 1559-1564. Available from: doi: 10.1007/s00415-016-8166-4

Batla, A., Bhatia, K. (2014), A new gene for Fahr's syndrome—PDGF‐B. Movement Disorders. 29. 307-307. Available from: doi: 10.1002/mds.25788

Batla A, Tai XY, Schottlaender L, Erro, R., Balint, B., Bhatia, K. (2017) Deconstructing Fahr’s disease/syndrome of brain calcification in the era of new genes. Parkinsonism Related Disorders. 37:1–10. Update version available from: http://discovery.ucl.ac.uk/10045094/1/Revision%20clean%20updated7_11.pdf

Beall, S., Patten, B., Mallette, L., Jankovic, J. (1989) Abnormal systemic metabolism of iron, porphyrin, and calcium in Fahr's syndrome. Annals of Neurology. 26. 569–575. Available from: https://www.ncbi.nlm.nih.gov/pubmed/2817830

Ben Jamma, N., Abdellatif, S., Thabet, H. (2019) Fahr’s Disease: A Tunisian series of two cases. Евразийский Союз Ученых. 58. 4-8. Available from: doi: 10.31618/ESU.2413-9335.2019.2.58

Benke, T., Karner, E., Seppi, K., & Delazer, M., Marksteiner, J., Donnemiller, E. (2004). Subacute dementia and imaging correlates in a case of Fahr’s disease. Journal of Neurology. 75. 1163-1165. Available from: doi: 10.1136/jnnp.2003.019547

Bowirrat, A., Yassin, M., Artoul, F., Artul S. (2013) Fahr's disease: bilateral symmetrical striopallidodentate calcification in two brothers with two distinct presentations. Case Reports. 2013. Available from: doi: 10.1136/bcr-2013-200462

Brannan, T., Burger, A., Chaudary, M. (1980) Bilateral basal ganglia calcifications visualised on CT scan. Journal of Neurology, Neurosurgery, and Psychiatry. 43. 403-406. Available from: doi: 10.1136/jnnp.43.5.403

Brodaty, H., Mitchell, P., Luscombe, G., Kwok, J., Badenhop, R., McKenzie, R., Schofield, P.(2002) Familial idiopathic basal ganglia calcification (Fahr’s disease) without neurological, cognitive and psychiatric symptoms is not linked to the IBGC1 locus on chromosome 14q. Human Genetics. 110. 8–14. Available from: doi: 10.1007/s00439-001-0650-x

Calabrò, R. S., Spadaro, L., Marra, A., & Bramanti, P. (2014). Fahr’s disease presenting with dementia at onset: A case report and literature review. Behavioural Neurology. 750975. Available from: doi: 10.1155/2014/750975

Calili, D., Mutlu, N., Titiz, A., Akcaboy, Z., Aydin, E., Turan, I. (2016) Unexplained neuropsychiatric symptoms in intensive care: A Fahr Syndrome case. Journal of Pakistan Medical Association. 66. 1029-1031. Available from: https://www.jpma.org.pk/PdfDownload/7873

Calıskan, T., Gurbuz, S. (2013) Fahr’s Disease. Journal of Contemporary Medicine. 3. 133-135.

Cavalcanti-Mendes, G., de Carvalho, G., Christo, P., Malloy-Diniz, L., de Sousa, A. (2009) An unusual case of Fahr’s disease. Arquivos de Neuropsiquiatria. 67. 516-518. Available from: http://www.scielo.br/pdf/anp/v67n2b/v67n2ba29.pdf

Demiryurek, B., Gundogdu, A. (2018). Serum Fetuin-S Levels in Patients with Bilateral Basal Ganglia Calcification. Neuroscience Letters. 666. 148-152. Available from: doi: 10.1016/j.neulet.2017.12.050

Ding, Y., Dong, H. (2018) A Novel SLC20A2 Mutation Associated with Familial Idiopathic Basal Ganglia Calcification and Analysis of the Genotype‑Phenotype Association in Chinese Patients. Chinese Medical Journal. 131. 799-803. Available from: doi: 10.4103/0366-6999.228245

Duckett, S., Galle, P., Escourolle, R., Poirier, J., Hauw, J. (1977) Presence of zinc, aluminum, magnesium in striopalledodentate (SPD) calcifications (Fahr’s disease): Electron probe study. Acta Neuropathologica. 38.7–10. Available from: doi: 10.1007/BF0069126

Faye, A., Gawande, S., Tadke, R., Kirpekar, V., Bhave, S. (2014) A case of psychosis due to Fahr’s syndrome and response to behavioral disturbances with risperidone and oxcarbazepine. Indian Journal of Psychiatry. 56. 188-90. Available from: doi: 10.4103/0019-5545.130506

Geschwind, D., Loginov, M., Stern, J. (1999) Identification of a Locus on Chromosome 14q for Idiopathic Basal Ganglia Calcification (Fahr Disease). American Journal of Human Genetics. 65. 764-772. Available from: doi: 10.1086/302558

Giovanni Sgulò, F., Nuzzo, G., de Notaris, G., Seneca, V., Catapano, G. (2018) Cerebrovascular disorders and Fahr’s disease: Report of two cases and literature review. Journal of Clinical Neuroscience. 50. 163-164. Available from: https://www.ncbi.nlm.nih.gov/pubmed/29396057

Gülsün, M., Baykiz, A. F., Kabatas¸, S., Belli, H. (2006). Fahr syndrome: Three cases presenting with psychiatric signs. European Journal of General Medicine. 3. 35–40. Available from https://tspace.library.utoronto.ca/handle/1807/5908

Hammond, N., Munkacsi, A., Sturley, S. (2019). The complexity of a monogenic neurodegenerative disease: More than two decades of therapeutic driven research into Niemann-Pick type C disease. Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids. Available from: doi: 10.1016/j.bbalip.2019.04.002

Harrington, M., Macpherson, P., McIntosh, W., Allam, B., Bone, I. (1981) The significance of the incidental finding of basal ganglia calcification on computerised tomography. Journal of Neurology, Neurosurgery and Psychiatry. 44. 1168-1170. Available from: doi: 10.1136/jnnp.44.12.1168

Hecser, L., Croitorescu, L., Siklodi, K. P., & Jung, H. (2010). Fahr’s disease: Bilateral symmetrical striopallidodentate calcification. Revista de Medicina Legala. 26. 25–26. Available from: http://www.rjlm.ro/system/revista/13/25-26.pdf

Hempel, A., Henze, M., Berghoff, C., Garcia, N., Ody, R., Schröder, J. (2002) PET findings and neuropsychological deficits in a case of Fahr's disease. Psychiatry Research: Neuroimaging. 108. 133–140. Available from: doi: 10.1016/S0165-1781(01)00308-0

Iwase, T., Yoshida, M., Hashizume, Y., Yazawa, I., Takahashi, S., Ando, T., Ikeda, T., Nokura, K. (2019) Intracranial vascular calcification with extensive white matter changes in an autopsy case of pseudopseudohypoparathyroidism. Neuropathology. 39. 39-46. Available from: doi: 10.1111/neup.12518

Jin Lee, Y., Park, S., Wook Kim, Y., Park, K., Kim. H, Han Park., J., Soo Park., B. (2018). A Case of Seizure Revealing Fahr’s Syndrome with Primary Hypoparathyroidism. American Journal of Case Reports. 19. 1430-1433. Available from: doi: 10.12659/AJCR.913382


Kazis, A. (1985) Contribution of CT scan to the diagnosis of Fahr’s Syndrome. Acta Neurologica Scandinavica. 71. 206-211. Available from: doi: 10.1111/j.1600-0404.1985.tb03190.x

Kimur, T., Miura, T., Aoki, K., Saito, S., Hondon, H., Konno, T., Uchiyama, A., Ikeuchi, T., Takahashi, H., Kakita, A. (2016) Familial idiopathic basal ganglia calcification: Histopathologic features of an autopsied patient with an SLC20A2 mutation. Neuropathology. 36. 365-371. Available from: doi: 10.1111/neup.12280

Koncz, R., Mohan, A., Dawes, L., Thalamuthu, A., Wright, M., Ames, D., Lee, T., Trollor, J., Wen, W., Sachdev, P. (2018). Incidental findings on cerebral MRI in twins: the Older Australian Twins Study. Brain Imaging and Behavior. 12. 860-869. Available from: doi: 10.1007/s11682-017-9747-2

Konig, P. (1989) Psychopathological alterations in cases of symmetrical basal ganglia sclerosis. Biological Psychiatry. 25. 459–468. Available from: doi: 10.1016/0006-3223(89)90199-6

Konupcikova, K., Masopust, J., Vais, M., Horacek, J. (2008) Dementia in a patient with Fahr’s syndrome. Neuroendocrinology Letters. 29. 431-434. Available from: https://europepmc.org/abstract/med/18766160

Kumar, S., Sher, K., Ahmed, S., Naik, S., Ayub, S., Motiwala, F., Ahmed, R. (2013) Fahr’s Disease: A Rare Neurological Disease Frequently Misdiagnosed as Acute Psychosis, or Mood Disorder. Neurological Disorders. 1. 130. Available from: doi: 10.4172/2329-6895.1000130

Lam, J., Fong, S., Yiu, G., Wing, Y. (2007). Fahr’s disease: A differential diagnosis of frontal lobe syndrome. Hong Kong Medical Journal. 13. 75–77. Available from: doi: 10.1.1.526.5050

Lazar, M., Ion, D., Streinu-Cercel, A., Badarau, A. (2009) Fahr's syndrome: diagnosis issues in patients with unknown family history of disease. Romanian Journal of Morphology and Embryology. 50. 425–428. Available from: http://www.rjme.ro/RJME/resources/files/500309425428.pdf

Lee, Y., Park, S., Kim, Y., Park, K. Kim, I., Park, J., Park, B. (2018) A Case of Seizure Revealing Fahr’s Syndrome with Primary Hypoparathyroidism. American Journal of Case Reports. 19. 1430-1433. Available from: doi: 10.12659/AJCR.913382

Legati, A., Giovannini, D., Nicolas, G. et al. (2015) Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export. Nature: Genetics. 47: 579–581.Available from: doi: 10.1038/ng.3289

López-Villegas, D., Kulisevsky, J., Deus, J., Junque, C., Pujol, J., Guardia, E., Grau, J. (1996) Neuropsychological Alterations in Patients With Computed Tomography—Detected Basal Ganglia Calcification. Archives of Neurology. 53. 251–256. Available from: doi: 10.1001/archneur.1996.00550030061023

Malik, R., Pandya, V., Naik, D. (2004) FAHR Disease – A Rare Neurodegenerative Disorder. Indian Journal of Radiological Imaging. 14. 383-384. Available from: http://medind.nic.in/ibn/t04/i4/ibnt04i4p383.pdf

Mann, D. (1988). Calcification of the basal ganglia in Down’s syndrome and Alzheimer’s disease. Acta Neuropathologica. 76. 595–598. Available from: doi:10.1007/BF00689598

Manyam, B. (2005) What is and what is not 'Fahr's disease'. Parkinsonism & related disorders. 11(2). 73-80. Available from: doi: https://doi.org/10.1016/j.parkreldis.2004.12.001

Martin, J., Wright IV, E., Hill, G. (2016). Fahr’s Disease: A Rare Puzzle for an Emergent Neurological Presentation. Journal of Emergency Medicine. 50. 667-669. Available from: http://dx.doi.org/10.1016/j.jemermed.2015.08.003

Matsuzaka, S., Nagai, Y., Hoshi, T., Serizawa, Y. (2018). MRI Cannot Detect Calcification for the Diagnosis of Fahr’s Syndrome. Internal Medicine. 57. 1951-1952. Available from: doi: 10.2169/internalmedicine.0514-17

Matthews, W. (1957) Familial Calcification of the basal ganglia with response to the parathormone. Journal of Neurology, Neurosurgery and Psychiatry. 20. 172. Available from: https://jnnp.bmj.com/content/jnnp/20/3/172.full.pdf

Modrego, P., Mojonero, J., Serrano, M., Fayed, N. (2005) Fahr’s syndrome presenting with pure and progressive presenile dementia. Neurological Sciences. 26. 367-369. Available from: doi: 10.1007/s10072-005-0493-7

Mohapatra, S., Satapathy, A. (2016). A case of schizophrenia-like psychosis due to Fahr’s disease. Indian Journal of Psychological Medicine. 38. 155–156. Available from: doi: 10.4103/0253-7176.178813

Mufaddel, A., Al Hassani, G., (2014) Familial idiopathic basal ganglia calcification (Fahr’s disease). Neurosciences. 19. 171-177. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4727649/

Mushtaq, R., Shoib, S., Raju, M., Naphade, N., Shah, T., Pawar, A. (2013) Neuropsychiatric manifestations of Fahr's disease pathogenesis and potential for treatment. Industrial Psychiatry Journal. 22. 153-154. Available from: doi: 10.4103/0972-6748.132931

Naqvi, S., Arshad, S., Hanif, R., Elfert, K. (2017). Fahr's Syndrome Misdiagnosed as Schizophrenia: A Case Report. Cureus. 9. E1071. Available from: doi: 10.7759/cureus.1071.

Nicolas, G., Guillin, O., Borden, A., Bioux, S., Lefaucheur, R., Hannequin, D. (2013) Psychosis revealing familial idiopathic basal ganglia calcification. General Hospital Psychiatry. 35. 575.e3-575.e5. Available from: doi: 10.1016/j.genhosppsych.2012.09.008

Nunomura, A. (2016) Idiopathic basal ganglia calcification (Fahr’s disease) and dementia. Psychiatry and Clinical Neurosciences. 70. 129-130. Available from: doi: 10.1111/pcn.12378

Oliveira, J., Spiteri, E., Sobrido, J., Hopfer, S., Klepper, J., Voit, T., Gilbert, J., Wszolek, Z., Calne, D., Stoessl, A., Hutton, M., Manyam, B., Boller, F., Baruero, M., Geschwind, D. (2004) Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease). Neurology. 63. 2165-2167. Available from: doi: 10.1212/01.WNL.0000145601.88274.88

Ongun, N., Degirmenci, E., Erdogan, C. (2016) Fahr’s Syndrome presenting with epileptic seizure: Two case reports. Northern Clinics of Istanbul. 3. 71-74. Available from: doi: 10.14744/nci.2015.47966

Otu, A., Anikwe, J., Cocker, D. (2015) Fahr’s disease: a rare neurological presentation in a tropical setting. Clinical Case Reports. 3. 806-808. Available from: doi: 10.1002/ccr3.349

Pedersen, A., Kledal, I., Penninga, L. (2018) Fahr’s Syndrome in a Greenlandic Inuit. Journal of the Belgian Society of Radiology. 102. 7. Available from: doi: 10.5334/jbr-btr.1439

Pilleri, G. (1966) A Case of Morbus Fahr (Nonarteriosclerotic, Idiopathic Intracerebral Calcification of the Blood Vessels) in Three Generations. European Neurology. 152. 43-58. Available from: doi: 10.1159/000128230

Pistacchi, M. Gioulis, M., Sanson, F., Marsala, Z. (2016) Case report Fahr's syndrome and clinical correlation: a case series and literature review. Foila Neuropathologica. 54. 282-294. Available from: doi: 10.5114/fn.2016.62538

Puschmann, A. (2017) New Genes Causing Hereditary Parkinson’s Disease or Parkinsonism. Current Neurology and Neuroscience. 17. 66. Available from: doi: 10.1007/s11910-017-0780-8

Randall, J., Gregor, M. (2016). A-56a pediatric case study of the neuropsychological profile of Fahr’s disease. Archives of Clinical Neuropsychology. 31. 605.1– 605. Available from: doi: 10.1093/arclin/acw043.56

Rangaswamy., Ranjith, V., Vikas, L., Santosh, R. (2016) Fahr’s Disease with Seizure Presentation. Journal of The Association of Physicians of India. 64. 84-85. Available from:

Rhoudaa, H., Gaouzib, A., Kriouilea, Y., (2019). Neuropsychological profile in childhood: Think about Fahr’s syndrome. Neuropsychiatrie de l’enfance et de l’adolescence. 67. 75–80. Available from: https://doi.org/10.1016/j.neurenf.2019.01.001

Saleem, S., Aslam, H., Anwar, M., Anwar, S., Saleem, M., Saleem, A., Rehmani, M. (2013) Fahr’s syndrome: literature review of current evidence. Orphanet Journal of Rare Diseases. 8. 156. Available from: doi:10.1186/1750-1172-8-156

Saadat, P., Hejazian, T., Mohseni Ahangar, R. (2018) Fahr’s Syndrome. Case Reports in Clinical Practice. 3. 74-78. Available from: http://crcp.tums.ac.ir/index.php/crcp/article/view/195/244

Sava. A., Dumitrescu, G., Haba, D., (2013) The Fahr syndrome and the chronic lymphocytic thyroiditis. Russian ournal of Morphology and Embryology. 54. 195–200. Available from: https://europepmc.org/abstract/med/23529330

Savino, E., Soavi, C., Capatti, E., Borrelli, M., Vigna, G., Passaro, A., Zuliani, G. (2016). Bilateral
strio-pallido-dentate calcinosis (Fahr’s disease): Report of seven cases and revision of literature. British Medical Council Neurology. 16. 165. Available from: doi: 10.1186/s12883-016-0693-1

Scotti, G., Scialfa, G., Tampieri, D., Landoni, L. (1985) Case Report: MR Imaging in Fahr Disease. Journal of Computer Assisted Tomography. 9. 790-792. Available from: https://journals.lww.com/jcat/Abstract/1985/07010/MR_Imaging_in_Fahr_Disease.24.aspx

Seidler, G. (1985) Psychiatric and psychological aspects of Fahr syndrome. Psychiatric Practice. 12. 203–205. Available from: https://www.ncbi.nlm.nih.gov/pubmed/4080875

Sekine, S., Nishii, K., Masaka, T., Kurita, H., Inden, M., Hozumi, I. (2019) SLC20A2 variants cause dysfunctional phosphate transport activity in endothelial cells induced from Idiopathic Basal Ganglia Calcification patients-derived iPSCs. Biochemical and Biophysical Research Communications. 510. 303-308. Available from: doi: 10.1016/j.bbrc.2019.01.096

Shakibai, S., Johnson, J., Bourgeois, J. (2005) Paranoid delusions and cognitive impairment suggesting Fahr's disease. Psychosomatics.46. 569–572. Available from: doi: 10.1176/appi.psy.46.6.569

Shibayama, H., Kobayashi, H., Iwase, S., Nakagawa, M., Marui, Y., Kayukawa, Y., Iwata, H., Takeuchi, T. (1986) Unusual cases of presenile dementia with Fahr's syndrome. Psychiatry and Clinical Neurosciences. 40. 85–100. Available from: doi: 10.1111/j.1440-1819.1986.tb01615.x

Shibayama ,H., Kobayashi, H., Nakagawa, M., Yamada, K., Iwata, H., Iwai K., et al. (1992) Non-Alzheimer non-Pick dementia with Fahr's syndrome. Clinical Neuropathology.11. 237–250. Available from: https://www.ncbi.nlm.nih.gov/pubmed/1424319

Shoyama, M., Kitabata, Y., Kaku, T., Shinosaki, K.(2005) Evaluation of regional cerebral blood flow in Fahr disease with schizophrenia-like psychosis: a case report. American Journal of Neuroradiology. 26. 2527–2529. Available from: http://www.ajnr.org/content/26/10/2527

Sridana, E., Putra, S. (2016) Fahr’s Syndrome: a rare case report. Indonesian Journal of Biomedical Science. 10. 15-19. Available from: doi: 10.15562/ijbs.v10i2.125

Srivastava, S., Bhatia, M., Sharma, V., Mahajan, S., Rajender, G., (2010) Fahr's Disease: An Incidental Finding in a Case Presenting with Psychosis. German Journal of Psychiatry. 13. 86–90. Available from: https://www.researchgate.net/publication/265201214_Fahr's_Disease_An_Incidental_Finding_in_a_Case_Presenting_with_Psychosis

Stamelou, M., Kojovic, M., Edwards, M., Bhatia, K. (2011), Ability to cycle despite severe freezing of gait in atypical parkinsonism in Fahr's syndrome. Movement Disorders. 26. 2141-2142. Available from: doi: 10.1002/mds.23794

Strobos, R., La Torre, E., Martin, J. (1957) Symmetrical calcification of the Basal Ganglia with Familial Ataxia and Pigmentary Macular Degeneration. Brain. 80. 313-318. Available from: doi: 10.1093/brain/80.3.313

Tai, X., Batla, A. (2015) Fahr’s disease: current perspectives. Orphan Drugs: Research and Reviews. 5. 43-49. Available from: doi: 10.2147/ODRR.S63388

Taxer, F., Haller, R., König, P. (1986) Clinical early symptoms and CT findings in Fahr syndrome. Der Nervenarzt. 57. 583-588. Available from: https://www.researchgate.net/publication/19375410_Clinical_early_symptoms_and_CT-Scan_findings_in_Fahr_syndrome

Timm., B. (2017) “But you don't look sick”: An examination of visual representations of the clinical and lived experiences of chronic illness in Instagram. Thesis. Minnesota State University. Available from: https://cornerstone.lib.mnsu.edu/etds/717/

Tissier, M., Nakad, S. Vignon-Pennamen, M., Lependu, C., Bouaziz, J., Groh, M. (2019) Severe hypocalcaemia-related pustular psoriasis in an 83-yearold woman with Fahr’s syndrome: a case report. Journal of European Academy of Dermatology and Venereology. 33. e42. Available from: doi: 10.1111/jdv.15158

Verma, I., Gupta, R., Singh, S., Warkade, D. (2016). Bilateral symmetrical basal ganglia calcification with atypical presentation: A case series. IJSS Case Reports & Reviews, 2, 20–23. Available from: doi: 10.17354/cr/2016/180

Viteva, E., Djurkova, A. (2015). Fahr’s disease with epilepsy, deafness, schizophreniform psychosis and autoimmune polymyositis: a case report. Rare Disease and Orphan Drugs. 2. 34-37. Available from: https://pdfs.semanticscholar.org/27d9/df5c2745d532aac43f1a2556a3fa57d65cf5.pdf

Weisman, D., Yaari, R., Hansen, L., Thal, L. (2007) Density of the Brain, Decline of the Mind: An Atypical Case of Fahr Disease. Archives of Neurology. 64. 756–757. Available from: doi: 10.1001/archneur.64.5.756

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Yang, C., Lo, C., Wu, M. (2016) Ischemic stroke in a young patient with Fahr’s disease: a case report. BMC Neurology. 16.33. Available from: doi: 10.1186/s12883-016-0557-8

Zandgrandi, A., Gasparini, F., Marti, A., Ivanovski, I., Napoli, M., Bartletta-Rodolfi, C., Angelini, D., Ghindoni, E. (2018) Imaging and Neurophysical Profile of Four Patients With Fahr’s Disease. Psychology & Neuroscience. 11. 68-79. Available from: doi: 10.1037/pne0000114

Zhang, Q., Li, Z., Sun, H., Zhang, S., Wang, Y., Fang, H., Xu, Y. (2019) Generation of induced pluripotent stem cell line (ZZUi0012-A) from a patient with Fahr's disease caused by a novel mutation in SLC20A2 gene. Stem Cell Research. 35. Available from: doi: 10.1016/j.scr.2019.101395