Familial idiopathic basal ganglia calcification (Fahr disease)

Cover Page

Cite item

Full Text

Open Access Open Access
Restricted Access Access granted
Restricted Access Subscription or Fee Access

Abstract

Fahr disease is a rare genetic pathology proceeding with brain calcification. Magnetic resonance imaging of the brain has the decisive importance in its diagnosis. Current article describes clinical cases of Fahr disease, in which the clinical picture was manifested by cognitive, motor disorders and convulsive syndrome. Idiopathic calcification of basal ganglia is a relatively rare disease, understanding of the pathogenesis and clinical picture of which has significantly expanded our knowledge of neurodegenerative pathologies.

Full Text

Restricted Access

About the authors

Ekaterina S. Ostapchuk

Tyumen State Medical University of the Ministry of Healthcare of Russia; Regional Clinical Hospital No. 1

Author for correspondence.
Email: ostapchukes2008@mail.ru
ORCID iD: 0000-0003-1176-4113
SPIN-code: 6877-6140

MD, PhD (Medicine), associate professor of the Department of neurology with a course in neurosurgery of the Institute of clinical medicine, head of the Department of neurology

Russian Federation, Tyumen; Tyumen

Anastasia A. Meng

Tyumen State Medical University of the Ministry of Healthcare of Russia; Regional Clinical Hospital No. 1

Email: nastya1398@bk.ru
ORCID iD: 0009-0000-2539-0816

MD, neurologist at the Department of neurology

Russian Federation, Tyumen; Tyumen

Andrey A. Vorobyov

Tyumen State Medical University of the Ministry of Healthcare of Russia

Email: avmvv@mail.ru
ORCID iD: 0009-0001-8169-0589

MD, neurologist at the Department of neurology

Russian Federation, Tyumen

References

  1. Новикова Л.Б., Акопян А.П., Шарапова К.М., Карасева О.А. Неврологические проявления синдрома Фара. Российский неврологический журнал. 2021;26(5):39–43. [Novikova LB, Akopyan AP, Sharapova KM, Karaseva OA. Case of neurological manifestations of Fahr’s syndrome. Rossiiskiy nevrologicheskiy zhurnal = Russian Neurological Journal. 2021;26(5):39–43 (In Russ.)]. EDN: PYJWGD. https://doi.org/10.30629/2658-7947-2021-26-5-39-43
  2. Хорева М.А., Смагина И.В. Кальцификация базальных ганглиев. Этиопатогенез, диагностика, клинические проявления. Российский неврологический журнал. 2020;25(4):4–13. [Khoreva MA, Smagina IV. Basal ganglia calcification. Aetiopathogenesis, diagnostics, clinical manifestations. Rossiiskiy nevrologicheskiy zhurnal = Russian Neurological Journal. 2020;25(4):4–13 (In Russ.)]. EDN: DMDZZS. https://doi.org/10.30629/2658-7947-2020-25-4-4-13
  3. Малышенко Ю.А., Сороко И.В., Кобер Д.В., Богачев Р.С., Митюков А.Е. Синдром Фара. Клинический случай. Фундаментальная и клиническая медицина. 2019;4(3):128–132. [Malyshenko YuA, Soroko IV, Kober DV, Bogachev RS, Mityukov AE. Primary familial brain calcification: A clinical case. Fundamental’naya i klinicheskaya meditsina = Fundamental and Clinical Medicine. 2019;4(3):128–132 (In Russ.)]. EDN: NFAZZR. https://doi.org/10.23946/2500-0764-2019-4-3-128-132
  4. Матвеева Т.В., Овсянникова К.С. Первичная (Болезнь Фара) и вторичная кальцификация базальных ганглиев (клиническое наблюдение). Неврологический вестник. 2016;48(2):57–62.[Matveeva TV, Ovsyannikova KS. Primary (Fahr disease) and secondary calcification of the basal ganglia (clinical observation). Nevrologicheskiy vestnik = Neurology Bulletin. 2016;48(2):57–62 (In Russ.)]. EDN: WAHSBV.
  5. Евтушенко С.К., Евтушенко И.А. Патогенез и клинические проявления ювенильной и сенильной форм болезни Фара (научный обзор). Международный неврологический журнал. 2016;(1):159–162. [Yevtushenko SK, Yevtushenko IA. Pathogenesis and clinical manifestations of juvenile and senile Fahr disease (scientific review). Mezhdunarodnyy nevrologicheskiy zhurnal = International Neurological Journal. 2016;(1):159–162 (In Russ.)]. EDN: WAHQZJ. https://doi.org/10.22141/2224-0713.1.79.2016.74339
  6. Иванченко Е.Н., Шеденко М.И., Спижарский Е.В., Долгановская Н.А., Кондратьева А.А. Клинический случай болезни Фара. Омский психиатрический журнал. 2016;(3):11–15. [Ivanchenko EN, Shedenko MI, Spizharsky EV, Dolganovskaya NA, Kondratieva AA. A clinical case of Fahr’s disease. Omskiy psikhiatricheskiy zhurnal = Omsk Psychiatric Journal. 2016;(3):11–15 (In Russ.)]. EDN: YMBLQT.
  7. Kumar P, Singh R, Shah K. Psychiatric manifestations in Fahr’s syndrome: A case report. Cureus. 2020;12(10):e10770. PMID: 33154842. PMCID: PMC7606226. https://doi.org/10.7759/cureus.10770
  8. Козлов С.И., Алексеева Л.А. Болезнь Фара. Клиническое наблюдение распространенной идиопатической кальцификации подкорковых структур, коморбидной с гипопаратиреозом. Омский психиатрический журнал. 2018;(4):14–17. [Kozlov SI, Alekseeva LA. Fahr’s disease. Clinical observation of widespread idiopathic calcification of subcortical structures, comorbid with hypoparathyroidism. Omskiy psikhiatricheskiy zhurnal = Omsk Psychiatric Journal. 2018;(4):14–17 (In Russ.)]. EDN: VPYZTP.
  9. Iwase T, Yoshida M, Hashizume Y, Yazawa I, Takahashi S, Ando T et al. Intracranial vascular calcification with extensive white matter changes in an autopsy case of pseudopseudohypoparathyroidism. Neuropathology. 2019;39(1):39–46. PMID: 30430658. https://doi.org/10.1111/neup.12518
  10. Mitsutake A, Matsukawa T, Porto KJL, Sato T, Katsumata J, Seki T et al. A Japanese family with primary familial brain calcification presenting with paroxysmal kinesigenic dyskinesia – A comprehensive mutational analysis. J Neurol Sci. 2020;418:117091. PMID: 32798841. https://doi.org/10.1016/j.jns.2020.117091
  11. Ма-Ван-дэ А.Ю., Ширшов Ю.А., Соболинская Ж.А. с соавт. Идиопатическая стриатопаллидодентатная кальцификация: особенности диагностики. Забайкальский медицинский вестник. 2023;(3):126–131. [Ma-Van-De AYu, Shirshov YuA, Sobolinskaya ZhA, Ma-Van-De YuA, Varfolomeev AE. Idiopathic striatopallidodentate calcification: Description of the clinical case. Zabaikal’skiy meditsinskiy vestnik = Transbaikalian Medical Bulletin. 2023;(3):126–131 (In Russ.)]. EDN: PODSWW. https://doi.org/10.52485/19986173_2023_3_126
  12. Неврология. Национальное руководство. Под ред. Е.И. Гусева, А.Н. Коноваловой, В.И. Сквроцовой. М.: ГЭОТАР-Медиа. 2019; 880 с. [Neurology. National Guidelines. Edited by E.I. Gusev, A.N. Konovalovа, V.I. Skvortsova. M.: GEOTAR-Media. 2019; 880 pp. (In Russ.)]. ISBN: 978-5-97-045173-1, 978-5-9704-5173-1.
  13. Ferreira LD, de Oliveira JRM. The need for consensus on primary familial brain calcification nomenclature. J Neuropsychiatry Clin Neurosci. 2018;30(4):291–93. PMID: 30045681. https://doi.org/10.1176/appi.neuropsych.18030044
  14. Pistacchi M, Gioulis M, Sanson F, Marsala SZ. Fahr’s syndrome and clinical correlation: A case series and literature review. Folia Neuropathol. 2016;54(3):282–94. PMID: 27764521. https://doi.org/10.5114/fn.2016.62538

Supplementary files

Supplementary Files
Action
1. JATS XML
2. Fig. 1. Computed tomography of the brain of patient S.

Download (299KB)
3. Fig. 2. Computed tomography of the brain of patient K.

Download (232KB)

Copyright (c) 2025 Bionika Media