Research & Literature

Primary familial brain calcification with known gene mutations: a systematic review and challenges of phenotypic characterization.

Tadic V, Westenberger A, Domingo A, et al.

JAMA neurology 2015; (72(4)):460-7 doi:10.1001/jamaneurol.2014.3889.

Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers.

Nicolas G, Charbonnier C, de Lemos RR, et al.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2015; (168(7)):586-94 doi:10.1002/ajmg.b.32336.

XPR1: a Gene Linked to Primary Familial Brain Calcification Might Help Explain a Spectrum of Neuropsychiatric Disorders.

Moura DA, Oliveira JR

Journal of molecular neuroscience : MN 2015; (57(4)):519-21 doi:10.1007/s12031-015-0631-5.

Generalized epilepsy in a family with basal ganglia calcifications and mutations in SLC20A2 and CHRNB2.

Fjaer R, Brodtkorb E, Øye AM, et al.

European journal of medical genetics 2015; (58(11)):624-8.

SLC20A2 Deficiency in Mice Leads to Elevated Phosphate Levels in Cerbrospinal Fluid and Glymphatic Pathway-Associated Arteriolar Calcification, and Recapitulates Human Idiopathic Basal Ganglia Calcification.

Wallingford MC, Chia JJ, Leaf EM, et al.

Brain pathology (Zurich, Switzerland) 2017; (27(1)):64-76 doi:10.1111/bpa.12362.

A Case of Primary Hypoparathyroidism Presenting with Acute Kidney Injury Secondary to Rhabdomyolysis.

Sumnu A, Aydin Z, Gursu M, et al.

Case reports in nephrology 2016; (2016()):3240131 doi:10.1155/2016/3240131.

White matter involvement in a family with a novel PDGFB mutation.

Biancheri R, Severino M, Robbiano A, et al.

Neurology. Genetics 2016; (2(3)):e77 doi:10.1212/NXG.0000000000000077.

XPR1 mutations are a rare cause of primary familial brain calcification.

Anheim M, López-Sánchez U, Giovannini D, et al.

Journal of neurology 2016; (263(8)):1559-64 doi:10.1007/s00415-016-8166-4.

Bilateral strio-pallido-dentate calcinosis (Fahr's disease): report of seven cases and revision of literature.

Savino E, Soavi C, Capatti E, et al.

BMC neurology 2016; (16()):165 doi:10.1186/s12883-016-0693-1.

Brain Calcification and Movement Disorders.

Kostić VS, Petrović IN

Current neurology and neuroscience reports 2017; (17(1)):2 doi:10.1007/s11910-017-0710-9.

Estimation of minimal disease prevalence from population genomic data: Application to primary familial brain calcification.

Nicolas G, Charbonnier C, Campion D, Veltman JA

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2018; (177(1)):68-74 doi:10.1002/ajmg.b.32605.

SCL20A2 mutation presenting with acute ischemic stroke: a case report.

Zhang X, Ma G, Zhao Z, Zhu M

BMC neurology 2018; (18(1)):11 doi:10.1186/s12883-018-1012-9.

Refractory focal epilepsy in a paediatric patient with primary familial brain calcification.

Knowles JK, Santoro JD, Porter BE, Baumer FM

Seizure 2018; (56()):50-52 doi:10.1016/j.seizure.2018.02.001.

Anticipation in a family with primary familial brain calcification caused by an SLC20A2 variant.

Konno T, Blackburn PR, Rozen TD, et al.

Neurologia i neurochirurgia polska 2018; (52(3)):386-389 doi:10.1016/j.pjnns.2018.03.007.

Mice Knocked Out for the Primary Brain Calcification-Associated Gene Slc20a2 Show Unimpaired Prenatal Survival but Retarded Growth and Nodules in the Brain that Grow and Calcify Over Time.

Jensen N, Schrøder HD, Hejbøl EK, et al.

The American journal of pathology 2018; (188(8)):1865-1881 doi:10.1016/j.ajpath.2018.04.010.

Primary brain calcification: an international study reporting novel variants and associated phenotypes.

Ramos EM, Carecchio M, Lemos R, et al.

European journal of human genetics : EJHG 2018; (26(10)):1462-1477 doi:10.1038/s41431-018-0185-4.

Evaluation of MYORG mutations as a novel cause of primary familial brain calcification.

Chen Y, Fu F, Chen S, et al.

Movement disorders : official journal of the Movement Disorder Society 2019; (34(2)):291-297 doi:10.1002/mds.27582.

Spectrum of SLC20A2, PDGFRB, PDGFB, and XPR1 mutations in a large cohort of patients with primary familial brain calcification.

Guo XX, Zou XH, Wang C, et al.

Human mutation 2019; (40(4)):392-403 doi:10.1002/humu.23703.

Ossified blood vessels in primary familial brain calcification elicit a neurotoxic astrocyte response.

Zarb Y, Weber-Stadlbauer U, Kirschenbaum D, et al.

Brain : a journal of neurology 2019; (142(4)):885-902 doi:10.1093/brain/awz032.

Underestimated disease prevalence and severe phenotypes in patients with biallelic variants: A cohort study of primary familial brain calcification from China.

Chen S, Cen Z, Fu F, et al.

Parkinsonism & related disorders 2019; (64()):211-219 doi:10.1016/j.parkreldis.2019.04.009.

Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype.

Grangeon L, Wallon D, Charbonnier C, et al.

Brain : a journal of neurology 2019; (142(6)):1573-1586 doi:10.1093/brain/awz095.

Characterization of XPR1/SLC53A1 variants located outside of the SPX domain in patients with primary familial brain calcification.

López-Sánchez U, Nicolas G, Richard AC, et al.

Scientific reports 2019; (9(1)):6776 doi:10.1038/s41598-019-43255-x.

Primary familial brain calcifications: genetic and clinical update.

Westenberger A, Balck A, Klein C

Current opinion in neurology 2019; (32(4)):571-578 doi:10.1097/WCO.0000000000000712.

MYORG Mutations: a Major Cause of Recessive Primary Familial Brain Calcification.

Bauer M, Rahat D, Zisman E, et al.

Current neurology and neuroscience reports 2019; (19(10)):70 doi:10.1007/s11910-019-0986-z.

Astrocyte-microglial association and matrix composition are common events in the natural history of primary familial brain calcification.

Nahar K, Lebouvier T, Andaloussi Mäe M, et al.

Brain pathology (Zurich, Switzerland) 2020; (30(3)):446-464 doi:10.1111/bpa.12787.

Hypoparathyroidism with Fahr's syndrome: A case report and review of the literature.

Zhou YY, Yang Y, Qiu HM

World journal of clinical cases 2019; (7(21)):3662-3670 doi:10.12998/wjcc.v7.i21.3662.

Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification.

Schottlaender LV, Abeti R, Jaunmuktane Z, et al.

American journal of human genetics 2020; (106(3)):412-421 doi:10.1016/j.ajhg.2020.02.007.

MYORG-related disease is associated with central pontine calcifications and atypical parkinsonism.

Chelban V, Carecchio M, Rea G, et al.

Neurology. Genetics 2020; (6(2)):e399 doi:10.1212/NXG.0000000000000399.

Cortical myoclonus and epilepsy in a family with a new SLC20A2 mutation.

Coppola A, Hernandez-Hernandez L, Balestrini S, et al.

Journal of neurology 2020; (267(8)):2221-2227 doi:10.1007/s00415-020-09821-4.

Interplay between primary familial brain calcification-associated SLC20A2 and XPR1 phosphate transporters requires inositol polyphosphates for control of cellular phosphate homeostasis.

López-Sánchez U, Tury S, Nicolas G, et al.

The Journal of biological chemistry 2020; (295(28)):9366-9378 doi:10.1074/jbc.RA119.011376.

Brain hypoperfusion and nigrostriatal dopaminergic dysfunction in primary familial brain calcification caused by novel MYORG variants: case report.

Chen SY, Lin WC, Chang YY, et al.

BMC neurology 2020; (20(1)):329 doi:10.1186/s12883-020-01910-1.

SLC20A2-Associated Idiopathic Basal Ganglia Calcification-Related Recurrent Psychosis Response to Low-Dose Antipsychotics: A Case Report and Literature Review.

Uno A, Tamune H, Kurita H, et al.

Cureus 2020; (12(12)):e12407 doi:10.7759/cureus.12407.

Familial Idiopathic Basal Ganglia Calcification: A Father-Son Dyad Demonstrate Heterogeneity of Presentation and Disease Progression.

Zahniser E, Bird TD, Chen DH, et al.

Archives of clinical neuropsychology : the official journal of the National Academy of Neuropsychologists 2022; (37(1)):217-225 doi:10.1093/arclin/acab026.

Genotype-Phenotype Relations in Primary Familial Brain Calcification: Systematic MDSGene Review.

Balck A, Schaake S, Kuhnke NS, et al.

Movement disorders : official journal of the Movement Disorder Society 2021; (36(11)):2468-2480 doi:10.1002/mds.28753.

Familial idiopathic basal ganglia calcification with a heterozygous missense variant (c.902C>T/p.P307L) in SLC20A2 showing widespread cerebrovascular lesions.

Sakai K, Ishida C, Hayashi K, et al.

Neuropathology : official journal of the Japanese Society of Neuropathology 2022; (42(2)):126-133 doi:10.1111/neup.12781.

Novel likely pathogenic SLC20A variant in primary familial brain calcification.

Sharma R, Stitt D

BMJ case reports 2022; (15(3)) doi:10.1136/bcr-2021-245909.

Primary familial brain calcification in a patient with a novel compound heterozygous mutation in MYORG presenting with an acute ischemic stroke: a case report.

Yang Q, Li J, Jiao B, Weng L

Annals of translational medicine 2022; (10(7)):423 doi:10.21037/atm-21-4883.

Primary familial brain calcification with mild phenotype due to a new PDGFB mutation.

Locci S, Bianchi S, De Stefano N, Mignarri A

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2022; (43(10)):6091-6093 doi:10.1007/s10072-022-06171-z.

Aneurysmal subarachnoid hemorrhage with PFBC and beta thalassemia: a case report.

Yu K, Pang J, Yang X, et al.

BMC neurology 2023; (23(1)):33 doi:10.1186/s12883-023-03072-2.

A novel MYORG mutation causes primary familial brain calcification with migraine: Case report and literature review.

Song T, Zhao Y, Wen G, et al.

Frontiers in neurology 2023; (14()):1110227 doi:10.3389/fneur.2023.1110227.

The clinical and genetic spectrum of primary familial brain calcification.

Carecchio M, Mainardi M, Bonato G

Journal of neurology 2023; (270(6)):3270-3277 doi:10.1007/s00415-023-11650-0.

The Genetics of Primary Familial Brain Calcification: A Literature Review.

Chen SY, Ho CJ, Lu YT, et al.

International journal of molecular sciences 2023; (24(13)) doi:10.3390/ijms241310886.

The Association between Intracranial Calcifications and Symptoms in Patients with Primary Familial Brain Calcification.

Mathijssen G, van Valen E, de Jong PA, et al.

Journal of clinical medicine 2024; (13(3)) doi:10.3390/jcm13030828.

Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.

Chelban V, Aksnes H, Maroofian R, et al.

Nature communications 2024; (15(1)):2269 doi:10.1038/s41467-024-46354-0.

Novel findings in a Swedish primary familial brain calcification cohort.

Sennfält S, Gustavsson P, Malmgren H, et al.

Journal of the neurological sciences 2024; (460()):123020 doi:10.1016/j.jns.2024.123020.

Non-Motor Symptoms in Primary Familial Brain Calcification.

Bonato G, Cimino P, Pistonesi F, et al.

Journal of clinical medicine 2024; (13(13)) doi:10.3390/jcm13133873.

Astrocytes modulate brain phosphate homeostasis via polarized distribution of phosphate uptake transporter PiT2 and exporter XPR1.

Cheng X, Zhao M, Chen L, et al.

Neuron 2024; (112(18)):3126-3142.e8 doi:10.1016/j.neuron.2024.06.020.

Primary familial brain calcification presenting with parkinsonism and motor complications caused by a novel SLC20A2 variant: a case report.

Sun D, Wang Y, Wang J, et al.

Frontiers in neurology 2024; (15()):1382534 doi:10.3389/fneur.2024.1382534.

Antisense oligonucleotides enhance SLC20A2 expression and suppress brain calcification in a humanized mouse model.

Zhao M, Cheng X, Chen L, et al.

Neuron 2024; (112(19)):3278-3294.e7 doi:10.1016/j.neuron.2024.07.013.

White matter disorders with cerebral calcification in adulthood.

Chelban V, Houlden H

Handbook of clinical neurology 2024; (204()):111-131 doi:10.1016/B978-0-323-99209-1.00024-7.

Astrocytes in Primary Familial Brain Calcification (PFBC): Emphasis on the Importance of Induced Pluripotent Stem Cell-Derived Human Astrocyte Models.

Kavakli E, Gul N, Begentas OC, Kiris E

Advances in experimental medicine and biology 2025; (1479()):19-38 doi:10.1007/5584_2024_840.

Progressive Motor and Cognitive Dysfunction in Fahr's Disease: A Clinical Case Report.

Almutairi MM, Ahmed ZJ, Ahmed MY, et al.

Cureus 2025; (17(1)):e77969 doi:10.7759/cureus.77969.

Basal ganglia calcification: 'Fahr's disease'.

Magrinelli F, Jesuthasan A, Bhatia KP, Batla A

Practical neurology 2025; (25(6)):520-526 doi:10.1136/pn-2024-004258.

Gene Variants Related to Primary Familial Brain Calcification: Perspectives from Bibliometrics and Meta-Analysis.

Yang D, Lu Y, Huang H, et al.

eNeuro 2025; (12(6)) doi:10.1523/ENEURO.0058-25.2025.

Diagnostic Challenges in Fahr's Disease: A Rare Case of Extensive Basal Ganglia Calcifications.

Rodenko PN, Slavkovska T, Bhatnagar V, et al.

Cureus 2025; (17(8)):e91056 doi:10.7759/cureus.91056.

CT-based Volume Measurement of Brain Calcification Is Related to Clinical Symptoms and Disease Progression in Primary Familial Brain Calcification.

Snijders BMG, Pierey L, Peters MJL, et al.

Clinical neuroradiology 2026; (36(2)):431-438 doi:10.1007/s00062-025-01595-4.

Silent stone: Idiopathic presentation of Fahr's disease.

Jung JK, Zazay I, Burmeister JR, Khan A

SAGE open medical case reports 2025; (13()):2050313X251395982 doi:10.1177/2050313X251395982.

Primary Brain Calcification: An International Consensus on Nomenclature, Diagnosis, Evaluation, and Management.

Luo W, Cen Z, Koek H, et al.

Movement disorders : official journal of the Movement Disorder Society 2026; (41(2)):315-336 doi:10.1002/mds.70140.

Fahr syndrome associated with hypoparathyroidism: Case report.

Zhao B, Li J, Yu J, et al.

Medicine 2025; (104(51)):e46742 doi:10.1097/MD.0000000000046742.

Rare Presentation of Homozygous SLC20A2 Mutations Causing Intra-Arterial Cerebral Vasculopathy and Stroke in Infancy: Case Report and Review of the Literature.

Baker L, Hadid F, Irshaidat SS, et al.

Case reports in genetics 2025; (2025()):1587968 doi:10.1155/crig/1587968.

Basal Ganglia Calcifications for Nephrologists: Fahr/Primary Familial Brain Calcification (PFBC) at the Interface of Chronic Kidney Disease-Mineral and Bone Disorder (CKD-MBD) and Hypoparathyroidism.

Alrashidi FS

Cureus 2025; (17(12)):e99031 doi:10.7759/cureus.99031.

Added value of material decomposition for measuring brain calcification progression with spectral computed tomography in primary familial brain calcification.

van der Star S, Allaerts N, Koek HL, et al.

European journal of radiology 2026; (205()):113188 doi:10.1016/j.ejrad.2026.113188.

Eiken syndrome presenting as pseudohypoparathyroidism due to PTH1R gene pathogenic variant.

Manasa CVS, Guddeti A, Bora A, et al.

JCEM case reports 2026; (4(11)):luag300 doi:10.1210/jcemcr/luag300.