ReviewNeurology. Clinical practice2020
Mechanisms of calcification in Fahr disease and exposure of potential therapeutic targets.
Review in Neurology. Clinical practice, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
What it found
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The trial behind it
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
22 citing papers in PubMed, 36 citations in OpenAlex.
- Early-onset Fahr's disease with acute psychosis in a 20-year-old male with SLC20A2 mutation: A case report and literature review.Radiology case reports · 2026Article
- [A case report of severe hypocalcemia secondary to Fahr's syndrome].Anales del sistema sanitario de Navarra · 2026Article
- Mapping Disorders with Neurological Features Through Mitochondrial Impairment Pathways: Insights from Genetic Evidence.Current issues in molecular biology · 2025Review
- Incidental Calcifications of Carotid and Vertebral Arteries: Frequency and Associations in Pediatric Population.Diagnostics (Basel, Switzerland) · 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
- Challenging Diagnosis of Fahr's Disease Mimicking Parkinson's Disease: A Case Report.Clinical case reports · 2025Article
- Article
- Fahr's Syndrome With Neurocognitive Dysfunction Due to Hypoparathyroidism: A Case Report.Case reports in endocrinology · 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
- Calcification Formation for Development, Defense, and Repair of the Human Body?Journal of clinical medicine · 2024Article
- Global huntingtin knockout in adult mice leads to fatal neurodegeneration that spares the pancreas.Life science alliance · 2024Article
- Fahr syndrome and neurological manifestations in hypoparathyroidism patients.Radiology case reports · 2024Article
- The effects of etidronate on brain calcifications in Fahr's disease or syndrome: rationale and design of the randomised, placebo-controlled, double-blind CALCIFADE trial.Orphanet journal of rare diseases · 2024Article
- Article
- First-time seizure revealing late-onset Fahr's disease: a case report and brief literature review.Frontiers in human neuroscience · 2024Article
- Fahr's disease linked to a novel mutation in MYORG variants manifesting as paroxysmal limb stiffness and dysarthria: Case report and literature review.Molecular genetics & genomic medicine · 2023Review
- Ectopic Calcification: What Do We Know and What Is the Way Forward?Journal of clinical medicine · 2023Article
- The Pathology of Primary Familial Brain Calcification: Implications for Treatment.Neuroscience bulletin · 2023Review
- Post-traumatic cauda equina nerve calcification: A case report.World journal of clinical cases · 2023Article
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purpose of reviewThere is growing interest in disorders involved in ectopic mineralization. Fahr disease or idiopathic basal ganglia calcification can serve as a model for ectopic mineralization in the basal ganglia, which is fairly common in the general population. In this review, we will focus on causative gene mutations and corresponding pathophysiologic pathways in Fahr disease. RECENT
findingsPatients with Fahr disease have a variability of symptoms, such as movement disorders, psychiatric signs, and cognitive impairment, but can also be asymptomatic. Fahr disease is mostly autosomal dominant inherited, and there are mutations found in 4 causative genes. Mutations in SUMMARY: Knowledge about the mutations and corresponding pathways may expose therapeutic opportunities for patients with Fahr disease and vascular calcifications in the brain in general.
Identifiers
What Socratic holds
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.