Page 111 - AN-4-4
P. 111
Advanced Neurology Incidental PFBC: Case report
relations in primary familial brain calcification: Systematic in PDGFB. Neurology. 2015;84(17):181-1820.
MDSGene review. Mov Disord. 2021;36(11):2468-2480.
doi: 10.1212/WNL.0000000000001517
doi: 10.1002/mds.28753 13. Farahmand MY, Wasselius J, Englund E, Braverman I,
7. Shen J, Shillington A, Espay A, Hill E. Familial brain Puschmann A, Ilinca A. Small vessel disease in primary
calcifications with leukoencephalopathy: A novel PDGFB familial brain calcification with novel truncating PDGFB
variant. Neurol Genet. 2022;8(4):e200001. variants. Neurol Neurochir Pol. 2024;58(1):94-105.
doi: 10.1212/NXG.0000000000200001 doi: 10.5603/pjnns.97716
8. Donzuso G, Mostile G, Nicoletti A, Zappia M. Basal ganglia 14. Abedini M, Karimi N, Tabrizi N. Cooccurrence of multiple
calcifications (Fahr’s syndrome): Related conditions and sclerosis and idiopathic basal ganglia calcification. Case Rep
clinical features. Neurol Sci. 2019;40(11):2251-2263. Med. 2015;838243.
doi: 10.1007/s10072-019-03998-x doi: 10.1155/2015/838243
9. Krupinski J, Issa R, Bujny T, et al. A putative role for platelet- 15. Chen SY, Ho CJ, Lu YT, Lin CH, Lan MY, Tsai MH. The
derived growth factor in angiogenesis and neuroprotection genetics of primary familial brain calcification: A literature
after ischemic stroke in humans. Stroke. 1997;28(3):562-573. review. Int J Mol Sci. 2023;24(13):10886.
doi: 10.1161/01.str.28.3.564 doi: 10.3390/ijms241310886
10. Biancheri R, Severino M, Robbiano A, et al. White matter 16. Ramos EM, Oliveira J, Sobrido MJ, Coppola G. Primary
involvement in a family with a novel PDGFB mutation. familial brain calcification. In: Adam MP, Feldman J,
Neurol Genet. 2016;2(3):e77. Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors.
GeneReviews . Seattle, WA: University of Washington,
®
doi: 10.1212/NXG.0000000000000077 Seattle; 1993-2024.
11. Mathorne SW, Sorensen K, Fagerberg C, Bode Matthias, 17. Amisha F, Munakomi S. Fahr syndrome. In StatPearls.
Hertz JM. A novel PDGFRB sequence variant in a family Treasure Island, FL: StatPearls Publishing; 2024. Available
with a mild form of primary familial brain calcification: from: https://www.ncbi.nlm.nih.gov/books/NBK560857
A case report and a review of the literature. BMC Neurol. [Last accessed on 2023 Aug 13].
2019;19(1):60.
18. Carecchio M, Mainardi M, Bonato G. The clinical and
doi: 10.1186/s12883-019-1292-8 genetic spectrum of primary familial brain calcification.
J Neurol. 2023;270(6):3270-3277.
12. Keogh MJ, Pyle A, Daud D, et al. Clinical heterogeneity of
primary familial brain calcification due to a novel mutation doi: 10.1007/s00415-023-11650-0
Volume 4 Issue 4 (2025) 105 doi: 10.36922/an.4854

