ArticleEuropean journal of human genetics : EJHG2018
Primary brain calcification: an international study reporting novel variants and associated phenotypes.
Article in European journal of human genetics : EJHG, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers, 1 of them a synthesis that pooled it.
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Who cites it
36 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Gene Variants Related to Primary Familial Brain Calcification: Perspectives from Bibliometrics and Meta-Analysis.eNeuro · 2025Pooled it
- A novel SLC20A2 nonsense variant and mechanistic studies of primary brain calcification.PloS one · 2026Article
- Stroke Mimicking Thalamotomy in Primary Familial Brain Calcification.Movement disorders clinical practice · 2025Article
- Computational molecular characterization of a novel SLC20A2 variant associated with primary familial brain calcification.Scientific reports · 2025Article
- Fahr's disease presenting with ischemic stroke in young adult: a case report of rare disease with unique presentation.Annals of medicine and surgery (2012) · 2025Article
- Skin calcium deposits in primary familial brain calcification: A novel potential biomarker.Annals of clinical and translational neurology · 2025Article
- Structure and function of human XPR1 in phosphate export.Nature communications · 2025Article
- Synergistic activation of the human phosphate exporter XPR1 by KIDINS220 and inositol pyrophosphate.Nature communications · 2025Article
- Structural insights into the mechanism of phosphate recognition and transport by XPR1.Nature communications · 2025Article
- Bilateral Cerebral Calcifications in Secondary Fahr's Syndrome.Case reports in neurological medicine · 2025Article
- Astrocytes in Primary Familial Brain Calcification (PFBC): Emphasis on the Importance of Induced Pluripotent Stem Cell-Derived Human Astrocyte Models.Advances in experimental medicine and biology · 2025Review
- Article
- Upstream open reading frame-introducing variants in patients with primary familial brain calcification.European journal of human genetics : EJHG · 2024Article
- Article
- Case report: Primary familial brain calcification associated with a rareFrontiers in neuroscience · 2024Article
- Homozygous SLC20A2 mutations cause congenital CMV infection-like phenotype.Acta neurologica Belgica · 2023Article
- The Genetics of Primary Familial Brain Calcification: A Literature Review.International journal of molecular sciences · 2023Review
- Brain Calcifications: Genetic, Molecular, and Clinical Aspects.International journal of molecular sciences · 2023Review
- A case report of a patient with primary familial brain calcification with aFrontiers in neurology · 2023Article
- MiR-9-5p Regulates Genes Linked to Cerebral Calcification in the Osteogenic Differentiation Model and Induces Generalized Alteration in the Ion Channels.Journal of molecular neuroscience : MN · 2021Article
Corrections and comments
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Authors and funding
38 authors.
Funding
Abstract
Primary familial brain calcification (PFBC) is a rare cerebral microvascular calcifying disorder with a wide spectrum of motor, cognitive, and neuropsychiatric symptoms. It is typically inherited as an autosomal-dominant trait with four causative genes identified so far: SLC20A2, PDGFRB, PDGFB, and XPR1. Our study aimed at screening the coding regions of these genes in a series of 177 unrelated probands that fulfilled the diagnostic criteria for primary brain calcification regardless of their family history. Sequence variants were classified as pathogenic, likely pathogenic, or of uncertain significance (VUS), based on the ACMG-AMP recommendations. We identified 45 probands (25.4%) carrying either pathogenic or likely pathogenic variants (n = 34, 19.2%) or VUS (n = 11, 6.2%). SLC20A2 provided the highest contribution (16.9%), followed by XPR1 and PDGFB (3.4% each), and PDGFRB (1.7%). A total of 81.5% of carriers were symptomatic and the most recurrent symptoms were parkinsonism, cognitive impairment, and psychiatric disturbances (52.3%, 40.9%, and 38.6% of symptomatic individuals, respectively), with a wide range of age at onset (from childhood to 81 years). While the pathogenic and likely pathogenic variants identified in this study can be used for genetic counseling, the VUS will require additional evidence, such as recurrence in unrelated patients, in order to be classified as pathogenic.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.