Fahr's syndrome: Literature review of current evidence

Orphanet Journal of Rare Diseases

Volumn 8, Issue 1, 2013, Pages

  Saleem, Shafaq ^a   Aslam, Hafiz Muhammad ^a   Anwar, Maheen ^a   Anwar, Shahzad ^a   Saleem, Maria ^b   Saleem, Anum ^a   Rehmani, Muhammad Asim Khan ^c  

^a DOW UNIVERSITY OF HEALTH SCIENCES   (Pakistan)

^b KARACHI MEDICAL AND DENTAL COLLEGE   (Pakistan)

^c CIVIL HOSPITAL   (Pakistan)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM;

AGE DISTRIBUTION; AICARDI GOUTIERES SYNDROME; BASAL GANGLION; BONE DYSPLASIA; BRAIN CALCIFICATION; BRUCELLOSIS; CAFFEY DISEASE; CALCIUM METABOLISM; CLINICAL FEATURE; COCKAYNE SYNDROME; COMPUTER ASSISTED TOMOGRAPHY; CYTOMEGALOVIRUS INFECTION; DIFFERENTIAL DIAGNOSIS; DISEASE ASSOCIATION; EXUDATIVE RETINITIS; FAHR DISEASE; FAMILY PLANNING; GENETIC COUNSELING; HERPES SIMPLEX; HUMAN; HYPERPARATHYROIDISM; INCIDENCE; LEUKOENCEPHALOPATHY; MITOCHONDRIAL MYOPATHY; MOLECULAR GENETICS; MOTOR DYSFUNCTION; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION; NEUROIMAGING; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PATHOGENESIS; PRACTICE GUIDELINE; PSEUDOHYPOPARATHYROIDISM; REVIEW; RISK ASSESSMENT; RUBELLA; TOXOPLASMOSIS; TUBEROUS SCLEROSIS; VITAMIN D DEFICIENCY;

BASAL GANGLIA DISEASES; CALCINOSIS; FEMALE; HUMANS; MALE;

EID: 84885003995     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-8-156     Document Type: Review

References (66)

1. Bilateral striopallidodentate calcinosis http://www.orpha.net/consor/cgi- bin/OC-Exp.php?Lng=GB&Expert=1980
2. Bilateral striopallidodentate calcinosis: clinical characteristics of patients seen in a registry. Manyam BV, Walters AS, Narla KR, Movement disorders: official journal of the Movement Disorder Society 2001 16 2 258 264 10.1002/mds.1049 11295778 (Pubitemid 36054145)
3. Familial idiopathic striopallidodentate calcifications. Ellie E, Julien J, Ferrer X, Neurology 1989 39 3 381 385 10.1212/WNL.39.3.381 2927646 (Pubitemid 19094730)
4. Idiopathische verkalkung der hirngefässe. Fahr T, Zentrabl Allg Pathol 1930 50 129 133
5. Fahr's syndrome. Ahad MA, Bala C, Karim S, Bangladesh Medical Journal Khulna 2013 45 1-2 33 35
6. Idiopathic calcification of the basal ganglia. Chiu H, Lam L, Shum P, Li K, Postgraduate medical journal 1993 69 807 68 70 10.1136/pgmj.69.807.68 8446558 (Pubitemid 23052776)
7. Asymptomatic familial basal ganglia calcification with autosomal dominant inheritance: a family report. Yamada N, Hayashi T, No to hattatsu Brain and development 2000 32 6 515 519 11144166
8. Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease). Geschwind DH, Loginov M, Stern JM, Am J Hum Genet 1999 65 3 764 772 10.1086/302558 10441584 (Pubitemid 30468722)
9. Identification of a novel genetic locus on chromosome 8p21. 1-q11. 23 for idiopathic basal ganglia calcification. Dai X, Gao Y, Xu Z, Cui X, Liu J, Li Y, Xu H, Liu M, Wang QK, Liu JY, Am J Med Genet B Neuropsychiatr Genet 2010 153 7 1305 1310
10. 2q37 as a susceptibility locus for idiopathic basal ganglia calcification (IBGC) in a large South Tyrolean family. Volpato CB, De Grandi A, Buffone E, Facheris M, Gebert U, Schifferle G, Schönhuber R, Hicks A, Pramstaller PP, Journal of molecular neuroscience 2009 39 3 346 353 10.1007/s12031-009-9287-3 19757205
11. Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. Wang C, Li Y, Shi L, Ren J, Patti M, Wang T, de Oliveira JR, Sobrido M-J, Quintáns B, Baquero M, Nature genetics 2012 44 3 254 256 10.1038/ng.1077 22327515
12. 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"). da Silva RJ, Pereira IC, Oliveira JR, J of Molec Neuro: MN 2013 50 2 280 283 10.1007/s12031-013-0001- 0
13. Association between a novel mutation in SLC20A2 and familial idiopathic basal ganglia calcification. Zhang Y, Guo X, Wu A, PloS one 2013 8 2 57060 10.1371/journal.pone.0057060 23437308
14. Fahr disease-A rare neurodegenerative disorder. Malik R, Pandya V, Naik D, Indian J of Radiology and Imaging 2004 14 4 383
15. Familial calcification of the basal ganglions: a metabolic and genetic study. Moskowitz MA, Winickoff RN, Heinz ER, N Engl J Med 1971 285 2 72 77 10.1056/NEJM197107082850202 4326703
16. What is and what is not 'Fahr's disease'. Manyam BV, Parkinsonism Relat Disord 2005 11 2 73 80 10.1016/j.parkreldis.2004.12.001 15734663 (Pubitemid 40279145)
17. Sobrid SH MJ, Geschwind DH, Familial Idiopathic Basal Ganglia Calcification: GeneReviews™ [Internet] Seattle (WA): University of Washington, Seattle 2004 Updated 2007 Sep 20
18. Familial idiopathic brain calcification with autosomal dominant inheritance. Kobari M, Nogawa S, Sugimoto Y, Fukuuchi Y, Neurology 1997 48 3 645 649 10.1212/WNL.48.3.645 9065541 (Pubitemid 27120100)
19. MRI demonstration and CT correlation of the brain in patients with idiopathic intracerebral calcification. Avrahami E, Cohn DF, Feibel M, Tadmor R, J Neurol 1994 241 6 381 384 10.1007/BF02033355 7931433 (Pubitemid 24172334)
20. Calcification in the basal ganglia with chronic active Epstein-Barr virus infection. Morita M, Tsuge I, Matsuoka H, Ito Y, Itosu T, Yamamoto M, Morishima T, Neurology 1998 50 5 1485 1488 10.1212/WNL.50.5.1485 9596016 (Pubitemid 28240380)
21. Familial idiopathic cerebral calcifications. Boller F, Boller M, Gilbert J, J Neurol Neurosurg Psychiatry 1977 40 3 280 285 10.1136/jnnp.40.3.280 886353 (Pubitemid 8095031)
22. Natural killer cell proliferation and circulating cytokines in patients with bilateral basal ganglia calcification. Morishima T, Morita M, Kato T, Hoshino Y, Kimura H, European Journal of Neurology: the official Journal of the European Federation of Neurological Societies 2002 9 5 521 525 10.1046/j.1468-1331.2002.00449.x 12220385 (Pubitemid 35013879)
23. Contribution of CT scan to the diagnosis of Fahr's syndrome. Kazis A, Acta Neurol Scand 1985 71 3 206 211 3993326 (Pubitemid 15107893)
24. Lauterbach EC, Psychiatric Management in Neurological Disease American psychiatric press 2005 http://books.google.com.pk/books?id=sE1qlE751XcC
25. Psychopathological alterations in cases of symmetrical basal ganglia sclerosis. König P, Biol Psychiatry 1989 25 4 459 468 10.1016/0006-3223(89) 90199-6 2930811 (Pubitemid 19063793)
26. Histochemical studies on the pathogenesis of idiopathic non-arteriosclerotic cerebral calcification. ADACHI M, WELLMANN KF, VOLK BW, Journal of Neuropathology & Experimental Neurology 1968 27 3 483 499 10.1097/00005072-196807000-00010
27. Fahr's Syndrome- An Interesting Case Presentation. Asokan AG, D'Souza S, Jeganathan J, Pai S, Journal of Clinical and Diagnostic Research: JCDR 2013 7 3 532 533 23634413
28. Subacute dementia and imaging correlates in a case of Fahr's disease. Benke T, Karner E, Seppi K, Delazer M, Marksteiner J, Donnemiller E, J Neurol Neurosurg Psychiatry 2004 75 8 1163 1165 10.1136/jnnp.2003.019547 15258221 (Pubitemid 39005776)
29. Calcification of the basal ganglia: computerized tomography and clinical correlation. Koller WC, Cochran JW, Klawans HL, Neurology 1979 29 3 328 333 10.1212/WNL.29.3.328 571978 (Pubitemid 9111013)
30. Calcification of the striopallidodentate system. Lowenthal A, Bruyn G, Handb Clin Neurol 1968 6 703 725
31. A laser microprobe mass analysis of trace elements in brain mineralizations and capillaries in Fahr's disease. Bouras C, Giannakopoulos P, Good P, Hsu A, Hof P, Perl D, Acta Neuropathol 1996 92 4 351 357 10.1007/s004010050529 8891066 (Pubitemid 26317101)
32. Abnormal systemic metabolism of iron, porphyrin, and calcium in Fahr's syndrome. Beall SS, Patten BM, Mallette L, Jankovic J, Ann Neurol 1989 26 4 569 575 10.1002/ana.410260412 2817830 (Pubitemid 19247235)
33. Bilateral striopallidodentate calcification (Fahr's syndrome) and multiple system atrophy in a patient with longstanding hypoparathyroidism. Preusser M, Kitzwoegerer M, Budka H, Brugger S, Neuropathology: Official Journal of the Japanese Society of Neuropathology 2007 27 5 453 456 10.1111/j.1440-1789.2007.00790.x 18018479 (Pubitemid 47459710)
34. Basal ganglia calcification in postoperative hypoparathyroidism. Forman MB, Sandler MP, Danziger A, Kalk WJ, Clin Endocrinol (Oxf) 1980 12 4 385 390 10.1111/j.1365-2265.1980.tb02725.x 7379319 (Pubitemid 10131715)
35. Basal ganglia calcification: clinical manifestations and diagnostic evaluation. Verulashvili IV, Glonti L, Miminoshvili DK, Maniia MN, Mdivani KS, Georgian Med News 2006 140 39 43 17179586
36. Familial bilateral vascular calcification in the central nervous system. Bruyn G, Bots G, Staal A, Psychiatr Neurol Neurochir 1964 67 342 14207403
37. Extensive bilateral intracranial calcifications: a case of iatrogenic hypoparathyroidism. Zisimopoulou V, Siatouni A, Tsoukalos G, Tavernarakis A, Gatzonis S, Case Reports in Medicine 2013 2013 932184 23509468
38. Calcification of basal ganglia in post-thyroidectomy hypoparathyroidism. Danowski T, Lasser E, Wechsler R, Metabolism: Clinical and Experimental 1960 9 1064 13719679
39. The Fahr syndrome and the chronic lymphocytic thyroiditis. Sava A, Dumitrescu G, Haba D, Hodorog D, Mihailov C, Sapte E, Romanian Journal of Morphology and Embryology = Revue Roumaine de Morphologie et Embryologie 2013 54 1 195 200 23529330
40. Intracranial hemorrhage revealing pseudohypoparathyroidism as a cause of fahr syndrome. Swami A, Kar G, Case Reports in Neurological Medicine 2011 2011 407567 22937338
41. Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. Parvari R, Hershkovitz E, Grossman N, Gorodischer R, Loeys B, Zecic A, Mortier G, Gregory S, Sharony R, Kambouris M, et al. Nat Genet 2002 32 3 448 452 10.1038/ng1012 12389028 (Pubitemid 35266124)
42. Fahr's disease and mitochondrial myopathy. Etcharry-Bouyx F, Ceccaldi M, Poncet M, Pellissier JF, Rev Neurol 1995 151 12 731 733 8787104
43. Neuroradiological features of six kindreds with MELAS tRNA(Leu) A2343G point mutation: implications for pathogenesis. Sue CM, Crimmins DS, Soo YS, Pamphlett R, Presgrave CM, Kotsimbos N, Jean-Francois MJ, Byrne E, Morris JG, J Neurol Neurosurg Psychiatry 1998 65 2 233 240 10.1136/jnnp.65.2.233 9703178
44. The high rate of prevalence of CT-detected basal ganglia calcification in neuropsychiatric (CNS) brucellosis. Mousa AM, Muhtaseb SA, Reddy RR, Senthilselvan A, Al-Mudallal DS, Marafie AA, Acta Neurol Scand 1987 76 6 448 456 10.1111/j.1600-0404.1987.tb03601.x 3434203 (Pubitemid 18016524)
45. Extensive brain calcification in two children with bilateral Coats' disease. Goutieres F, Dollfus H, Becquet F, Dufier JL, Neuropediatrics 1999 30 1 19 21 10.1055/s-2007-973451 10222456 (Pubitemid 29161090)
46. Neurological disorders in 166 patients with basal ganglia calcification: a statistical evaluation. Forstl H, Krumm B, Eden S, Kohlmeyer K, J Neurol 1992 239 1 36 38 10.1007/BF00839209 1541967
47. Basal ganglia calcification and psychotic symptoms in the very old. Ostling S, Andreasson LA, Skoog I, Int J Geriatr Psychiatry 2003 18 11 983 987 10.1002/gps.997 14618548 (Pubitemid 37479369)
48. Intracranial calcifications in the differential diagnosis of epileptic disease]. Arias MJ, González MT, Escorial MC, Marañón CA, Rev Clin Esp 1991 189 9 425 1792371
49. Fahr's disease and hypocalcemic syndromes. Presentation of a clinical case. Arranz PM, Ergueta MP, González SE, Marañón CA, Anales de medicina interna (Madrid, Spain 1992 1992 495 http://www.ncbi.nlm.nih.gov/ pubmed/1420763
50. Neuropsychiatric disorders, myoclonus, and dystonia in calcification of basal ganglia pathways. Lauterbach EC, Spears TE, Prewett MJ, Price ST, Jackson JG, Kirsh AD, Biol Psychiatry 1994 35 5 345 351 10.1016/0006-3223(94)90038-8 8011802 (Pubitemid 24150270)
51. Starnberg trial on epidemiology of Parkinsonism and hypertension in the elderly. Prevalence of Parkinson's disease and related disorders assessed by a door-to-door survey of inhabitants older than 65 years. Trenkwalder C, Schwarz J, Gebhard J, Ruland D, Trenkwalder P, Hense HW, Oertel WH, Arch Neurol 1995 52 10 1017 1022 10.1001/archneur.1995.00540340109020 7575219
52. Fahr syndrome and dysparathyroidism. 3 cases. el Maghraoui A, Birouk N, Zaim A, Slassi I, Yahyaoui M, Chkili T, Presse Medicale Paris, France: 1983 1995 24 28 1301 1304
53. Clinical early symptoms and CT findings in Fahr syndrome. Taxer F, Haller R, König P, Nervenarzt 1986 57 10 583 3785473
54. Neuropsychological Alterations in Patients With Computed Tomography-Detected Basal Ganglia Calcification. Lopez-Villegas D, Kulisevsky J, Deus J, Junque C, Pujol J, Guardia E, Grau JM, Arch Neurol 1996 53 3 251 10.1001/archneur.1996.00550030061023 8651878
55. Bilateral striopallidodentate calcinosis: cerebrospinal fluid, imaging, and electrophysiological studies. Manyam BV, Bhatt MH, Moore WD, Devleschoward AB, Anderson DR, Calne DB, Ann Neurol 1992 31 4 379 384 10.1002/ana.410310406 1586138
56. Idiopathic bilateral strio-pallido-dentate calcinosis (Fahr's disease): a case report and review of the literature. Abubakar SA, Saidu S, Ann Afr Med 2012 11 4 234 237 10.4103/1596-3519.102855 23103923
57. Fahr's syndrome presenting with pure and progressive presenile dementia. Modrego PJ, Mojonero J, Serrano M, Fayed N, Neurological Sciences: Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2005 26 5 367 369 10.1007/s10072-005-0493-7 16388376 (Pubitemid 43091351)
58. Unusual cases of presenile dementia with Fahr's syndrome. Shibayama H, Kobayashi H, Iwase S, Nakagawa M, Marui Y, Kayukawa Y, Iwata H, Takeuchi T, Psychiatry Clin Neurosci 1986 40 1 85 100 10.1111/j.1440-1819.1986.tb01615.x (Pubitemid 16016943)
59. Evaluation of regional cerebral blood flow in Fahr disease with schizophrenia-like psychosis: a case report. Shouyama M, Kitabata Y, Kaku T, Shinosaki K, American Journal of Neuroradiology 2005 26 10 2527 2529 16286395
60. Striato-pallido-dentate calcifications. Baptista M, Vale J, Leitao O, Acta Med Port 1997 10 8-9 563 9446474
61. Psychiatric and psychological aspects of Fahr syndrome. Seidler GH, Psychiatr Prax 1985 12 6 203 205 4080875 (Pubitemid 16208871)
62. Recurrent syncope and hypocalcaemic cardiomyopathy as manifestations of Fahr's syndrome. Broncel M, Kozirog M, Zabielska J, Poliwczak AR, Archives of Medical science: AMS 2010 6 1 117 121 22371731
63. PET findings and neuropsychological deficits in a case of Fahr's disease. Hempel A, Henze M, Berghoff C, Garcia N, Ody R, Schröder J, Psychiatry Res Neuroimaging 2001 108 2 133 140 10.1016/S0165-1781(01)00308-0 (Pubitemid 34003575)
64. Fahr's disease: a differential diagnosis of frontal lobe syndrome. Lam JS, Fong SY, Yiu GC, Wing YK, Hong Kong Medical Journal = Xianggang yi xue za zhi / Hong Kong Academy of Medicine 2007 13 1 75 77 (Pubitemid 46482039)
65. Primary hypoparathyroidism with basal ganglia calcification: report of a case. Chow K, Lu D, Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal] Zhonghua Minguo xiao er ke yi xue hui 1989 30 2 129 2637591
66. A rare case of idiopathic hypoparathyroidism with varied neurological manifestations. Abe S, Tojo K, Ichida K, Shigematsu T, Hasegawa T, Morita M, Sakai O, Intern Med 1996 35 2 129 134 10.2169/internalmedicine.35.129 8680101 (Pubitemid 126476966)