ReviewInternational journal of molecular sciences2023
The Genetics of Primary Familial Brain Calcification: A Literature Review.
Review in International journal of molecular sciences, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
29 citing papers in PubMed.
- Three phosphatase families form a community: The phosphohydrolases that act upon inositol pyrophosphates.FEBS letters · 2026Review
- Biallelic SLC20A2 loss-of-function in severe early-onset neurodevelopmental disorder with brain calcification.Journal of human genetics · 2026Article
- Cerebellar and brainstem MRI alterations in primary brain calcification.Neuroradiology · 2026Article
- A novelThe Journal of international medical research · 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
- A novel SLC20A2 nonsense variant and mechanistic studies of primary brain calcification.PloS one · 2026Article
- Experimental Primary Brain Calcification Model and Its Application to Pathogenesis Mechanism Analysis and Therapeutic Research.Neurology international · 2025Review
- Review
- Unexpected Diagnosis of Fahr's Disease in a Patient with Severe Obesity and a Heterozygotic Variant in theGenes · 2025Article
- Understanding brain calcification via N-terminal acetylation at the Golgi apparatus.Brain : a journal of neurology · 2025Review
- A Fragile Phosphate/Pyrophosphate Balance: From Essential Mineralization to Rare Calcifying Diseases.Current osteoporosis reports · 2025Review
- Delirious Hyperactivity and Agitation in a Young Male Unveiling an Intriguing Underlying Diagnosis: Case Report.Clinical practice and cases in emergency medicine · 2025Article
- Diagnostic Challenges in Fahr's Disease: A Rare Case of Extensive Basal Ganglia Calcifications.Cureus · 2025Article
- Skin calcium deposits in primary familial brain calcification: A novel potential biomarker.Annals of clinical and translational neurology · 2025Article
- Transport and InsPNature communications · 2025Article
- Molecular and cellular characteristics of cerebrovascular cell types and their contribution to neurodegenerative diseases.Molecular neurodegeneration · 2025Review
- A Forgotten Rare Cause of Unilateral Basal Ganglia Calcinosis Due to Venous Angioma and Complicating Acute Stroke Management: A Case Report.Diagnostics (Basel, Switzerland) · 2025Article
- Rare Presentation of Homozygous SCase reports in genetics · 2025Article
- Integrating genome and transcriptome analysis to decipher balanced structural variants in unsolved cases of neurodevelopmental disorders.Frontiers in genetics · 2025Article
- JAM2 variants can be more common in primary familial brain calcification (PFBC) cases than those appear; may be due to a founder mutation.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2024Article
Corrections and comments
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Authors and funding
6 authors.
Funding
Abstract
Primary familial brain calcification (PFBC), also known as Fahr's disease, is a rare inherited disorder characterized by bilateral calcification in the basal ganglia according to neuroimaging. Other brain regions, such as the thalamus, cerebellum, and subcortical white matter, can also be affected. Among the diverse clinical phenotypes, the most common manifestations are movement disorders, cognitive deficits, and psychiatric disturbances. Although patients with PFBC always exhibit brain calcification, nearly one-third of cases remain clinically asymptomatic. Due to advances in the genetics of PFBC, the diagnostic criteria of PFBC may need to be modified. Hitherto, seven genes have been associated with PFBC, including four dominant inherited genes (
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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 Socratic graph.