ArticleJournal of neurology2023
The clinical and genetic spectrum of primary familial brain calcification.
Article in Journal of neurology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 43 citations in OpenAlex.
- Biallelic SLC20A2 loss-of-function in severe early-onset neurodevelopmental disorder with brain calcification.Journal of human genetics · 2026Article
- Multimodal PET Findings in MYORG-Related Primary familial Brain Calcification Caused by a Novel Homozygous Frameshift Mutation.Cerebellum (London, England) · 2026Article
- Cerebellar and brainstem MRI alterations in primary brain calcification.Neuroradiology · 2026Article
- A novelThe Journal of international medical research · 2026Article
- CT-based Volume Measurement of Brain Calcification Is Related to Clinical Symptoms and Disease Progression in Primary Familial Brain Calcification.Clinical neuroradiology · 2026Article
- White Matter Matters: A Magnetic Resonance Imaging Study with Clinical Correlates in Primary Brain Calcification.Movement disorders : official journal of the Movement Disorder Society · 2026Article
- Addressing Behavioral and Psychiatric Symptoms in Dystonia: A Case Report of Fahr Disease.Clinical case reports · 2026Article
- A novel SLC20A2 nonsense variant and mechanistic studies of primary brain calcification.PloS one · 2026Article
- Intracranial calcifications in congenital viral infections: mechanisms and cellular roles.Current opinion in virology · 2025Review
- Article
- Diagnostic Challenges in Fahr's Disease: A Rare Case of Extensive Basal Ganglia Calcifications.Cureus · 2025Article
- Computational molecular characterization of a novel SLC20A2 variant associated with primary familial brain calcification.Scientific reports · 2025Article
- Skin calcium deposits in primary familial brain calcification: A novel potential biomarker.Annals of clinical and translational neurology · 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
- Rare Presentation of Homozygous SCase reports in genetics · 2025Article
- Deep clinical, genetic, and serum biomarker profiling indicates glial and neuronal pathology in primary brain calcification.Brain communications · 2025Article
- Fahr's Syndrome With Neurocognitive Dysfunction Due to Hypoparathyroidism: A Case Report.Case reports in endocrinology · 2025Article
- Genetic and pathophysiological insights from autopsied patient with primary familial brain calcification: novel MYORG variants and astrocytic implications.Acta neuropathologica communications · 2024Article
- A novel splicing mutation DNAH5 c.13,338 + 5G > C is involved in the pathogenesis of primary ciliary dyskinesia in a family with primary familial brain calcification.BMC pulmonary medicine · 2024Article
- Non-Motor Symptoms in Primary Familial Brain Calcification.Journal of clinical medicine · 2024Article
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Primary familial brain calcification (PFBC), formerly known as Fahr's disease, is a rare neurodegenerative disease characterized by bilateral progressive calcification of the microvessels of the basal ganglia and other cerebral and cerebellar structures. PFBC is thought to be due to an altered function of the Neurovascular Unit (NVU), where abnormal calcium-phosphorus metabolism, functional and microanatomical alterations of pericytes and mitochondrial alterations cause a dysfunction of the blood-brain barrier (BBB) and the generation of an osteogenic environment with surrounding astrocyte activation and progressive neurodegeneration. Seven causative genes have been discovered so far, of which four with dominant (SLC20A2, PDGFB, PDGFRB, XPR1) and three with recessive inheritance (MYORG, JAM2, CMPK2). Clinical presentation ranges from asymptomatic subjects to movement disorders, cognitive decline and psychiatric disturbances alone or in various combinations. Radiological patterns of calcium deposition are similar in all known genetic forms, but central pontine calcification and cerebellar atrophy are highly suggestive of MYORG mutations and extensive cortical calcification has been associated with JAM2 mutations. Currently, no disease-modifying drugs or calcium-chelating agents are available and only symptomatic treatments can be offered.
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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 Socratic graph.