Basal Ganglia Calcification. Aetiopathogenesis, Diagnostics, Clinical Manifestations
https://doi.org/10.30629/2658-7947-2020-25-4-4-13
Abstract
Fahr disease is a rare hereditary or sporadic neurological condition characterized by bilateral calcium deposition in the basal ganglia, dentate nuclei of cerebellum, and subcortical white matter. We can also distinguish Farh syndrome when its etiology is associated with the disorder of calcium metabolism, mitochondriopathies, cerebrum neoplasms, infections, inflammatory diseases of the nervous system, and injuries. The most common manifestations in patients with calcification of the basal ganglia of cerebrum are neurological and/or psychiatric disorders of varying severity. The clinical manifestation of the disease can occur at different ages, but mainly in young and middle-aged adults. However, some patients remain asymptomatic throughout their lives. The main clinical manifestations of the disease are extrapyramidal and movement disorders, emotional and cognitive impairments. At the same time, the correspondence of the form and severity of neurological conditions and the nature of calcification of the basal ganglia is rare. Currently, the treatment strategy for Fahr disease is based on symptomatic therapy and correction of etiological factors in Fahr syndrome. There is information about the reversibility of the calcification process and the complete restoration of mental functions in the early diagnosis and treatment of Fahr syndrome.
About the Authors
M. A. KhorevaRussian Federation
Khoreva Marina Aleksandrovna — Department of Psychiatry, Medical Psychology and Neurology
with the Course of the DPO, Barnaul
I. V. Smagina
Russian Federation
Barnaul
References
1. Fahr T. Idiopathische verkalkung der hirngefässe. Zentrabl. Allg. Pathol. 1930;50:129–133.
2. Saleem S., Muhammad Aslam H., Anwar M., Anwar S., Saleem M., Saleem A. Fahr’s syndrome: literature review of current evidence. Orphanet Journal of Rare Diseases. 2013;8:156. https://ojrd.biomedcentral.com/track/pdf/10.1186/1750-1172-8-156
3. Savino E., Soavi C., Capatti E., Borrelli M., Vigna G.B., Passaro A. et al. Bilateral strio-pallido-dentate calcinosis (Fahr’s disease): report of seven cases and revision of literature. BMC Neurology. 2016;16:165. https://doi.org/10.1186/s12883-016-0693-1
4. Ahad M.A., Bala C., Karim S. Fahr’s syndrome. Bangladesh Medical Journal Khulna. 2013;45(1–2):33–35. https://doi.org/10.3329/bmjk.v45i1-2.13628
5. Yamada N., Hayashi T. Asymptomatic familial basal ganglia calcification with autosomal dominant inheritance: a family report. No To Hattatsu. 2000;32:515–519. https://doi.org/10.1212/wnl.48.3.645
6. Wang C., Li Y., Shi L., Ren J., Patty M., Wang T. et al. Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. Nat. Genet. 2012;44:254–256. https://doi.org/10.1038/ng.1077
7. Nicolas G., Pottier C., Charbonnier C., Guyant-Maréchal L., Le Ber I., Pariente J. et al. French IBGC Study Group Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification. Brain. 2013;136(11):3395–3407. https://doi.org/10.1093/brain/awt255
8. Volpato C.B., De Grandi A., Buff one E., Facheris M., Gebert U., Schifferle G. et al. 2q37 as a susceptibility locus for idiopathic basal ganglia calcifi cation (IBGC) in a large South Tyrolean family. Journal of molecular neuroscience. 2009;39(3):346–353. https://doi.org/10.1007/s12031-009-9287-3
9. Dai X., Gao Y., Xu Z., Cui X., Liu J., Li Y. 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;153(7):1305–1310. https://doi.org/10.1002/ajmg.b.31102
10. Preusser M., Kitzwoegerer M., Budka H., Brugger S. Bilateral striopallidodentate calcification (Fahr’s syndrome) and multiple system atrophy in a patient with longstanding hypoparathyroidism. Neuropathology. 2007;27(5):453–456. https://doi.org/10.1111/j.1440-1789.2007.00790.x
11. Parvari R., Hershkovitz E., Grossman N., Gorodischer R., Loeys B., Zecic A. et al. Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny–Caffey syndrome. Nat. Genet. 2002;32(3):448–452. https://doi.org/10.1038/ng1012
12. Finsterer J., Kopsa W. Basal Ganglia Calcification in Mitochondrial Disorders. Metabolic Brain Disease. 2005;20(3):219–226. https://doi.org/10.1007/s11011-005-7209-9
13. Pistacchi M., Gioulis M., Sanson F., Marsala S.Z. Fahr’s syndrome and clinical correlation: a case series and literature review. Folia Neuropathol. 2016;54(3):282–294. http://dx.doi.org/10.5114/fn.2016.62538
14. Manyam B.V., Walters A.S., Narla K.R. Bilateral striopallidodentate calcinosis: clinical characteristics of patients seen in a registry. Movement disorders: official journal of the Movement Disorder Society. 2001;16(2):258–264. https://doi.org/10.1002/mds.1049
15. Mufaddel A.A., Al-Hassani G.A. Familial idiopathic basal ganglia calcification (Fahr`s disease). Neurosciences (Riyadh). 2014;19:171–177. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4727649/pdf/Neurosciences-19-171.pdf
16. Migliano M.T., Bergolari F., Donati D., Cesa F., Spampinato M.D., Puddu G.M. et al. Fahr’s Disease and Cerebrovascular Disease: A Case Report and a Literature Review. Austin. J. Clin. Neurol. 2018;5(1):1132. https://austinpublishinggroup.com/clinical-neurology/fulltext/ajcn-v5-id1132.pdf
17. Sgulò F.G., Nuzzo G., Notaris M., Seneca V., Catapano G. Cerebrovascular disorders and Fahr’s disease: Report of two cases and literature review. Journal of Clinical Neuroscience. 2018;50:163–164. http://dx.doi.org/10.1016/j.jocn.2018.01.002
18. Yang C.S., Lo C.P., Wu M.C. Ischemic stroke in a young patient with Fahr’s disease: a case report. BMC Neurology. 2016;16:33–37. https://doi.org/10.1186/s12883-016-0557-8
19. Chung E.J., Cho G., Kim S.J. A case of paroxysmal kinesigenic dyskinesia in idiopathic bilateral striopallidodentate calcinosis. Seizure. 2012;21(10):802–804. https://doi.org/10.1016/j.seizure.2012.08.004
20. Abubakar S., Saidu S. Idiopathic bilateral strio-pallido-dentate calcinosis (Fahr′s disease): A case report and review of the literature. Annals of African Medicine. 2012;11(4):234. https://dx.doi.org/10.4103/1596-3519.10285
21. Calabrò R. S., Spadaro L., Marra A., Bramanti P. Fahr’s Disease Presenting with Dementia at Onset: A Case Report and Literature Review. Behavioural Neurology. 2014;1–3. https://doi.org/10.1155/2014/750975
22. Gomille T., Meyer R.A., Falkai P., Gaebel W., Konigshausen T., Christ F. Prevalence and clinical significance of computerized tomography verified idiopathic calcinosis of the basal ganglia. Radiologe. 2001;41(2):205–210. https://doi.org/10.1007/s001170050965
23. Benke T., Karner E., Seppi K., Delazer M., Marksteiner J., Donnemiller E. Subacute dementia and imaging correlates in a case of Fahr’s disease. J. Neurol. Neurosurg. Psychiatry. 2004;75(8):1163–1165. https://jnnp.bmj.com/content/jnnp/75/8/1163.full.pdf
24. Oliveira J.R.M., Oliveira M.F. Basal ganglia calcification as aputative cause for cognitive decline. Dement. Neuropsychol. 2013;7(2):151–154. https://doi.org/10.1590/S1980-57642013DN70200003
25. Modrego P.J., Mojonero J., Serrano M., Fayed N. Fahr’s syndrome presenting with pure and progressive presenile dementia. Neurol Sci. 2005;26(5):367–369. https://doi.org/10.1007/s10072-005-0493-7
26. Chiriaco C., Novellino F., Salsone M., Gagliardi M., Morelli M., Quattrone A. Neuropsychological heterogeneity in patients with primary familial brain calcification due to a novel mutation in SLC20A2. Neurological Sciences. 2017;39(2):379–380. https://doi.org/10.1007/s10072-017-3125-0
27. Lam J.S., Fong S.Y., Yiu G.C., Wing Y.K. Fahr’s disease: a differential diagnosis of frontal lobe syndrome. Hong Kong Medical Journal. 2007;13(1):75–77. https://www.hkmj.org/system/files/hkm0702p75.pdf
28. Naqvi S., Arshad S., Hanif R., Elfert K.A.H. Fahr’s Syndrome Misdiagnosed as Schizophrenia: A Case Report. Cureus. 2017;9(3):e1071. https://doi.org/10.7759/cureus.1071
29. Ozkara B., Ozcan M., Budak F. Fahr Syndrome with Fluctuation in Consciousness and Temporary Vision Loss. Arch. Neurol. & Neurosci. 2019;5(5). http://dx.doi.org/10.33552/ANN.2019.05.000625
30. Lopez-Villegas D., Kulisevsky J., Deus J., Junque C., Pujol J., Guardia E. et al. Neuropsychological Alterations in Patients With Computed Tomography-Detected Basal Ganglia Calcification. Arch Neurol. 1996;53(3):251–256. https://doi.org/10.1001/archneur.1996.00550030061023
31. Bonelli R.M., Cummings J.L. Frontal sub-cortical dementias. Neurologist. 2008;14(2):100–7. https://doi.org/10.1097/NRL.0b013e31815b0de2
32. Tong K.A., Ashwal S., Obenaus A., Nickerson J.P., Kido D., Haacke E.M. Susceptibility-weighted MR imaging: a review of clinical applications in children. AJNR Am. J. Neuroradiol. 2008;29(1):9–17. https://mri-q.com/uploads/3/4/5/7/34572113/tong_susc_ajnr.pdf
33. Ooi H., Er C., Hussain I., Kuthiah N., Aravamudan V. M. (June 01, 2019) Bilateral Basal Ganglia Calcification: Fahr’s Disease. Cureus. 2019;11(6):e4797. https://doi.org/10.7759/cureus.4797
34. Zhou Yuan-Yuan, Yang Y., Qiu H.-M. Hypoparathyroidism with Fahr’s syndrome: A case report and review of the literature. World J. Clin. Cases. 2019;7(21):3662–3670. http://dx.doi.org/10.12998/wjcc.v7.i21.3662
35. Rudenskaya G.E., Zakharova E.Yu. Hereditary neurodegeneration with iron accumulation in the brain. Annaly klinicheskoy i eksperimental′noy nevrologii. 2013;7(4):51–60. http://annalynevrologii.com/ru/2016/09/08/nasledstvennye-nejrodegeneratsii-s-nakopleniem-zheleza-v-mozge/ (in Russian).
36. Hartig M., Iuso A., Haack T., Strom T.M., Meitinger T., Prokisch H. et al. Absence of an Orphan Mitochondrial protein, C19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation. Am. J. Hum. Genet. 2011;89(4):543–550. https://doi.org/10.1016/j.ajhg.2011.09.007
37. Horvath R., Holnski-Feder E., Neeve V., Pyle A., Griffin H., Ashok D. et al. A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy. Mov. Disord. 2012;27(6):789–793. https://doi.org/10.1002/mds.24980
38. Kumar N., Boes C., Babovic-Vuksanovic D., Boeve B. The “Eye of the Tiger” sign is not pathognomonic of the PANK2 mutation. Arch. Neurol. 2006;63(2):292–293. https://doi.org/10.1001/archneur.63.2.292
39. Strecker K., Hesse S., Wegner F., Sabri O., Schwarz J.. Schneider J.-P. Eye of the tiger sign in multiple system atrophy. Eur. J. Neurol. 2007;14:e1–e2. https://doi.org/10.1111/j.1468-1331.2007.01925.x
40. Perugula M. L., Lippmann S. Fahr’s disease or Fahr’s syndrome? Innov. Clin. Neurosci. 2016;13(7–8):45–46. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5022990/pdf/icns_13_7-8_45.pdf
41. Ahmad J., Gupta B., Kar S.K. Relevance of early intervention in Fahr’s disease: understanding through a case study. General Psychiatry. 2019;32:e100021. https://doi.org/10.1136/gpsych-2018-100021
42. Balaban H., Sahiner T., Degirmenci E. Olanzapine treatment in choreoathetosis due to bilateral strio-pallido-dentate calcinosis. Bull. Clin. Psychopharmacol. 2004;14:209–212. http://www.psikofarmakoloji.org/pdf/14_4_5.pdf
Review
For citations:
Khoreva M.A., Smagina I.V. Basal Ganglia Calcification. Aetiopathogenesis, Diagnostics, Clinical Manifestations. Russian neurological journal. 2020;25(4):4-13. (In Russ.) https://doi.org/10.30629/2658-7947-2020-25-4-4-13