ReviewCurrent neurology and neuroscience reports2014
The genetics of primary familial brain calcifications.
Review in Current neurology and neuroscience reports, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 45 citations in OpenAlex.
- Central nervous system pericytes express soluble ST2 in inflammation and injury.Molecular brain · 2026Article
- Challenging Diagnosis of Fahr's Disease Mimicking Parkinson's Disease: A Case Report.Clinical case reports · 2025Article
- Deep clinical, genetic, and serum biomarker profiling indicates glial and neuronal pathology in primary brain calcification.Brain communications · 2025Article
- Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.Nature communications · 2024Article
- Calcified Pilocytic Astrocytomas and Calcifying Pseudoneoplasms of the Neuraxis: A Diagnostic Challenge.Cureus · 2024Article
- PSEN1/SLC20A2 double mutation causes early-onset Alzheimer's disease and primary familial brain calcification co-morbidity.Neurogenetics · 2023Article
- A case report of a patient with primary familial brain calcification with aFrontiers in neurology · 2023Article
- Neuropsychiatric Manifestations of Fahr's Disease, Diagnostic and Therapeutic Challenge: A Case Report and a Literature Review.Clinical neuropsychiatry · 2022Article
- Mechanisms of calcification in Fahr disease and exposure of potential therapeutic targets.Neurology. Clinical practice · 2020Review
- Article
- Partial reduced Pi transport function of PiT-2 might not be sufficient to induce brain calcification of idiopathic basal ganglia calcification.Scientific reports · 2019Article
- A novel PDGFRB sequence variant in a family with a mild form of primary familial brain calcification: a case report and a review of the literature.BMC neurology · 2019Review
- Article
- A likely pathogenic variant in theAnnals of clinical and translational neurology · 2019Article
- Clinical and radiological diversity in genetically confirmed primary familial brain calcification.Scientific reports · 2017Article
- Update on the Genetics of Dystonia.Current neurology and neuroscience reports · 2017Review
- Primary Brain Calcification Causal PiT2 Transport-Knockout Variants can Exert Dominant Negative Effects on Wild-Type PiT2 Transport Function in Mammalian Cells.Journal of molecular neuroscience : MN · 2017Article
- Brain Calcification and Movement Disorders.Current neurology and neuroscience reports · 2017Review
- Vitamin-D receptor agonist calcitriol reduces calcification in vitro through selective upregulation of SLC20A2 but not SLC20A1 or XPR1.Scientific reports · 2016Article
- From variome to phenome: Pathogenesis, diagnosis and management of ectopic mineralization disorders.World journal of clinical cases · 2015Review
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Bilateral accumulation of calcium in the brain, most commonly in the basal ganglia, but also in the cerebellum, thalamus, and brainstem can be inherited in an autosomal dominant fashion and is then referred to as primary familial brain calcifications (PFBC). Clinical manifestations include a spectrum of movement disorders and neuropsychiatric abnormalities. In the past 2 years, 3 genes have been identified to cause PFBC, (ie, SLC20A2, PDGFRB, and PDGFB). SCL20A2 encodes the Type III sodium-dependent inorganic phosphate (Pi) transporter 2 (PiT2) and, when mutated, uptake of Pi is severely impaired likely causing buildup of calcium phosphate. The second identified cause of PFBC is mutations in PDGFRB, which codes for platelet-derived growth factor receptor β (PDGF-Rβ). Interestingly, the third PFBC gene is PDGFB that encodes the ligand of PDGF-Rβ, which is secreted during angiogenesis to recruit pericytes, thereby implying impairment of the blood-brain barrier as a disease mechanism of PFBC.
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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 OpenQuestion graph.