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Кальцификация базальных ганглиев. Этиопатогенез, диагностика, клинические проявления

https://doi.org/10.30629/2658-7947-2020-25-4-4-13

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Об авторах

М. А. Хорева
ФГБОУ ВО «Алтайский государственный медицинский университет» Минздрава России
Россия

Хорева Марина Александровна — канд. мед. наук, доцент кафедры психиатрии, медицинской психологии и неврологии с курсом ДПО, 656038, пр. Ленина, 40, Барнаул, Россия



И. В. Смагина
ФГБОУ ВО «Алтайский государственный медицинский университет» Минздрава России
Россия
Барнаул


Список литературы

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. Руденская Г.Е., Захарова Е.Ю. Наследственные нейродегенерации с накоплением железа в мозге. Анналы клинической и экспериментальной неврологии. 2013;7(4):51–60. http://annaly-nevrologii.com/ru/2016/09/08/nasledstvennyenejrodegeneratsii-s-nakopleniem-zheleza-v-mozge/

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


Рецензия

Для цитирования:


Хорева М.А., Смагина И.В. Кальцификация базальных ганглиев. Этиопатогенез, диагностика, клинические проявления. Российский неврологический журнал. 2020;25(4):4-13. https://doi.org/10.30629/2658-7947-2020-25-4-4-13

For citation:


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

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