ArticleScientific reports2017
Clinical and radiological diversity in genetically confirmed primary familial brain calcification.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 21 citations in OpenAlex.
- Somatic alterations and mutational burden are potential predictive factors for metachronous development of early gastric cancer.Scientific reports · 2020Trial
- Stroke Mimicking Thalamotomy in Primary Familial Brain Calcification.Movement disorders clinical practice · 2025Article
- Computational molecular characterization of a novel SLC20A2 variant associated with primary familial brain calcification.Scientific reports · 2025Article
- Inorganic phosphate exporter heterozygosity in mice leads to brain vascular calcification, microangiopathy, and microgliosis.Brain pathology (Zurich, Switzerland) · 2023Article
- The Genetics of Primary Familial Brain Calcification: A Literature Review.International journal of molecular sciences · 2023Review
- Zika virus NS3 protease induces bone morphogenetic protein-dependent brain calcification in human fetuses.Nature microbiology · 2021Article
- Idiopathic basal ganglia calcification may cause pathological conditions resembling Parkinson's disease.eNeurologicalSci · 2021Article
- Case Report: Two Novel Frameshift Mutations inFrontiers in genetics · 2021Article
- Brain hypoperfusion and nigrostriatal dopaminergic dysfunction in primary familial brain calcification caused by novel MYORG variants: case report.BMC neurology · 2020Article
- Functional evaluation of PDGFB-variants in idiopathic basal ganglia calcification, using patient-derived iPS cells.Scientific reports · 2019Article
- Ossified blood vessels in primary familial brain calcification elicit a neurotoxic astrocyte response.Brain : a journal of neurology · 2019Article
- NovelHuman genome variation · 2019Article
- Clinicopathological co-occurrence of Fahr's disease and dementia with Lewy bodies.Clinical neuropathologyArticle
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Primary familial brain calcification (PFBC) is a rare neuropsychiatric disorder with characteristic symmetrical brain calcifications. Patients with PFBC may have a variety of symptoms, although they also may be clinically asymptomatic. Parkinsonism is one of the most common movement disorders; however, the underlying mechanism remains unclear. This condition is typically transmitted in an autosomal dominant fashion. To date, mutations in SLC20A2, PDGFRB, PDGFB, and XPR1 have been reported to cause PFBC. The aim of the study was to identify the genetic cause of brain calcification in probands from three PFBC families and in 8 sporadic patients and to perform clinical and radiological assessments focusing on parkinsonism in mutation carriers. Three familial PFBC probands and their relatives and eight sporadic patients affected with brain calcifications were enrolled in this study. Whole-exome sequencing identified three novel mutations: c.269G > T, p.(Gly90Val) and c.516+1G > A in SLC20A2 in familial cases, and c.602-1G > T in PDGFB in a sporadic patient. The c.516+1G > A mutation resulted in exon 4 skipping in SLC20A2 (p.Val144Glyfs*85). Dopamine transporter single photon emission computed tomography using
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