ArticleNeurogenetics2013
Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification.
Article in Neurogenetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 67 papers, 1 of them a synthesis that pooled it.
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Who cites it
67 citing papers in PubMed, 1 synthesis or guideline pooled it, 147 citations in OpenAlex.
- Gene Variants Related to Primary Familial Brain Calcification: Perspectives from Bibliometrics and Meta-Analysis.eNeuro · 2025Pooled it
- Biallelic SLC20A2 loss-of-function in severe early-onset neurodevelopmental disorder with brain calcification.Journal of human genetics · 2026Article
- A Novel Frameshift Mutation inBiomedicines · 2026Article
- Genetic background of neurological disorders with basal ganglia calcification.Journal of neurology · 2025Article
- Multi territory ischemic stroke in a patient with Fahr's disease: Report of a rare case.Radiology case reports · 2025Article
- The genetic landscape of basal ganglia and implications for common brain disorders.Nature communications · 2024Article
- 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
- Optic disc drusen: Dystrophic calcification, a potential target for treatment.Eye (London, England) · 2024Review
- Idiopathic basal ganglia calcification presenting with obsessive-compulsive symptoms: A case report.PCN reports : psychiatry and clinical neurosciences · 2024Article
- Pharmacology of Mammalian NaHandbook of experimental pharmacology · 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
- Mechanisms of PiT2-loop7 Missense Mutations Induced Pi Dyshomeostasis.Neuroscience bulletin · 2023Article
- Neuropsychiatric Manifestations of Fahr's Disease, Diagnostic and Therapeutic Challenge: A Case Report and a Literature Review.Clinical neuropsychiatry · 2022Article
- Familial Idiopathic Basal Ganglia Calcification: A Father-Son Dyad Demonstrate Heterogeneity of Presentation and Disease Progression.Archives of clinical neuropsychology : the official journal of the National Academy of Neuropsychologists · 2022Article
- SLC20A2 mutation manifesting as very late-onset orofacial dyskinesia.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Article
- PDGF receptor mutations in human diseases.Cellular and molecular life sciences : CMLS · 2021Review
- Genetic updates on paroxysmal dyskinesias.Journal of neural transmission (Vienna, Austria : 1996) · 2021Review
- Case Report: Two Novel Frameshift Mutations inFrontiers in genetics · 2021Article
7 more citing papers are in PubMed but not listed here.
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52 authors at 20 institutions in 11 countries.
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Abstract
Familial idiopathic basal ganglia calcification (IBGC) or Fahr's disease is a rare neurodegenerative disorder characterized by calcium deposits in the basal ganglia and other brain regions, which is associated with neuropsychiatric and motor symptoms. Familial IBGC is genetically heterogeneous and typically transmitted in an autosomal dominant fashion. We performed a mutational analysis of SLC20A2, the first gene found to cause IBGC, to assess its genetic contribution to familial IBGC. We recruited 218 subjects from 29 IBGC-affected families of varied ancestry and collected medical history, neurological exam, and head CT scans to characterize each patient's disease status. We screened our patient cohort for mutations in SLC20A2. Twelve novel (nonsense, deletions, missense, and splice site) potentially pathogenic variants, one synonymous variant, and one previously reported mutation were identified in 13 families. Variants predicted to be deleterious cosegregated with disease in five families. Three families showed nonsegregation with clinical disease of such variants, but retrospective review of clinical and neuroimaging data strongly suggested previous misclassification. Overall, mutations in SLC20A2 account for as many as 41% of our familial IBGC cases. Our screen in a large series expands the catalog of SLC20A2 mutations identified to date and demonstrates that mutations in SLC20A2 are a major cause of familial IBGC. Non-perfect segregation patterns of predicted deleterious variants highlight the challenges of phenotypic assessment in this condition with highly variable clinical presentation.
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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.