ArticleNeurogenetics2014
SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia.
Article in Neurogenetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers, 1 of them a synthesis that pooled it.
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37 citing papers in PubMed, 1 synthesis or guideline pooled it, 63 citations in OpenAlex.
- Gene Variants Related to Primary Familial Brain Calcification: Perspectives from Bibliometrics and Meta-Analysis.eNeuro · 2025Pooled it
- The Importance of Neuropathology in a Complex Movement Disorder with Primary Familial 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
- Deletion of the THAP1 Gene Is Responsible for Typical DYT-THAP1.Movement disorders clinical practice · 2025Article
- Myelin lesion in the aspartoacylase (Aspa) knockout rat, an animal model for Canavan disease.Experimental animals · 2024Article
- 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
- Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin.American journal of human genetics · 2021Article
- Severe brain calcification and migraine headache caused by SLC20A2 and PDGFRB heterozygous mutations in a five-year-old Chinese girl.Molecular genetics & genomic medicine · 2021Article
- The importance of genetic testing for dystonia patients and translational research.Journal of neural transmission (Vienna, Austria : 1996) · 2021Review
- Isolated dystonia: clinical and genetic updates.Journal of neural transmission (Vienna, Austria : 1996) · 2021Review
- Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation.European journal of human genetics : EJHG · 2021Article
- Case Report: Two Novel Frameshift Mutations inFrontiers in genetics · 2021Article
- Digenic Variants as Possible Clinical Modifier of Primary Familial Brain Calcification Patients.Journal of molecular neuroscience : MN · 2020Article
- Partial reduced Pi transport function of PiT-2 might not be sufficient to induce brain calcification of idiopathic basal ganglia calcification.Scientific reports · 2019Article
- Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification.Journal of human genetics · 2019Article
- Intracranial calcifications and dystonia associated with a novel deletion of chromosome 8p11.2 encompassingBMJ case reports · 2019Article
- Primary familial brain calcification caused by a novel homozygous MYORG mutation in a consanguineous Italian family.Neurogenetics · 2019Article
- 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
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15 authors at 6 institutions in 3 countries.
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Abstract
Idiopathic basal ganglia calcification (IBGC) is characterized by bilateral calcification of the basal ganglia associated with a spectrum of neuropsychiatric and motor syndromes. In this study, we set out to determine the frequency of the recently identified IBGC gene SLC20A2 in 27 IBGC cases from the Mayo Clinic Florida Brain Bank using both Sanger sequencing and TaqMan copy number analysis to cover the complete spectrum of possible mutations. We identified SLC20A2 pathogenic mutations in two of the 27 cases of IBGC (7 %). Sequencing analysis identified a p.S113* nonsense mutation in SLC20A2 in one case. TaqMan copy number analysis of SLC20A2 further revealed a genomic deletion in a second case, which was part of a large previously reported Canadian IBGC family with dystonia. Subsequent whole-genome sequencing in this family revealed a 563,256-bp genomic deletion with precise breakpoints on chromosome 8 affecting multiple genes including SLC20A2 and the known dystonia-related gene THAP1. The deletion co-segregated with disease in all family members. The deletion of THAP1 in addition to SLC20A2 in the Canadian IBGC family may contribute to the severe and early onset dystonia in this family. The identification of an SLC20A2 genomic deletion in a familial form of IBGC demonstrates that reduced SLC20A2 in the absence of mutant protein is sufficient to cause neurodegeneration and that previously reported SLC20A2 mutation frequencies may be underestimated.
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