ArticleJournal of molecular neuroscience : MN2009
2q37 as a susceptibility locus for idiopathic basal ganglia calcification (IBGC) in a large South Tyrolean family.
Article in Journal of molecular neuroscience : MN, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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17 citing papers in PubMed, 55 citations in OpenAlex.
- Article
- Coexistent meningioma in a patient with primary familial brain calcification: A case report.Radiology case reports · 2023Article
- Investigating novel biomarkers in uterine corpus endometrial carcinoma: in silico analysis and clinical specimens validation via RT-qPCR and immunohistochemistry.American journal of cancer research · 2023Article
- Idiopathic basal ganglia calcification associated with newWorld journal of clinical cases · 2021Article
- Basal ganglia calcifications (Fahr's syndrome): related conditions and clinical features.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2019Review
- Bilateral strio-pallido-dentate calcinosis (Fahr's disease): report of seven cases and revision of literature.BMC neurology · 2016Article
- The genetics of primary familial brain calcifications.Current neurology and neuroscience reports · 2014Review
- SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia.Neurogenetics · 2014Article
- Fahr's syndrome: literature review of current evidence.Orphanet journal of rare diseases · 2013Review
- Mutation Analysis of SLC20A2 and SPP2 as Candidate Genes for Familial Idiopathic Basal Ganglia Calcification.Avicenna journal of medical biotechnology · 2013Article
- Analysis of the CTAGE5 P521A variation with the risk of familial idiopathic basal ganglia calcification in an Iranian population.Journal of molecular neuroscience : MN · 2013Article
- Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification.Neurogenetics · 2013Article
- Association between a novel mutation in SLC20A2 and familial idiopathic basal ganglia calcification.PloS one · 2013Article
- Exclusion of linkage to chromosomes 14q, 2q37 and 8p21.1-q11.23 in a Serbian family with idiopathic basal ganglia calcification.Journal of neurology · 2011Article
- Strio-pallido-dentate calcinosis: a diagnostic approach in adult patients.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2011Review
- Population and computational analysis of the MGEA6 P521A variation as a risk factor for familial idiopathic basal ganglia calcification (Fahr's disease).Journal of molecular neuroscience : MN · 2011Article
- Article
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Authors and funding
9 authors at 2 institutions in 2 countries.
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No grant is acknowledged in the PubMed record.
Abstract
Familial idiopathic basal ganglia calcification (FIBGC) is an inherited neurodegenerative disorder characterized by the accumulation of calcium deposits in different brain regions, particularly in the basal ganglia. FIBGC usually follows an autosomal dominant pattern of inheritance. Despite the mapping to chromosome 14q of a susceptibility locus for IBGC (IBCG1) in one family, this locus has been excluded in several others, demonstrating genetic heterogeneity in this disorder. The etiology of this disorder thus remains largely unknown. Using a large extended multigenerational Italian family from South Tyrol with 17 affected in a total of 56 members, we performed a genome-wide linkage analysis in which we were able to exclude linkage to the IBCG1 locus on chromosome 14q and obtain evidence of a novel locus on chromosome 2q37. Electronic supplementary material. The online version of this article (doi:10.1007/s12031-009-9287-3) contains supplementary material, which is available to authorized users.
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