Abstract
Mutations at the SLC20A2 gene and brain resilience in families with idiopathic basal ganglia calcification (“Fahr's disease”)
Highlights
Wang et al (2012) recently identified seven novel mutations at the SLC20A2 gene in families from China, Spain and Brazil, suggesting that Familial Idiopathic Basal Ganglia Calcification (IBGC) might be a phosphate imbalance disorder
Two French families with IBGC were reported with mutations at the platelet derived growth factor receptor B (PDGFRB) gene, opening a new venue for the comprehension of this phenotype as being caused by different molecular failures in mechanisms of vascular homeostasis (Nicolas et al, 2013)
The mode of inheritance of IBGC is mainly reported in literature as autosomal dominant, sometimes displaying anticipation, a phenomenon widely described in diseases with similar pattern of inheritance and first reported in familial IBGC by Geschwind et al (1999)
Summary
Wang et al (2012) recently identified seven novel mutations at the SLC20A2 gene in families from China, Spain and Brazil, suggesting that Familial Idiopathic Basal Ganglia Calcification (IBGC) might be a phosphate imbalance disorder. A commentary on Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis by Wang, C., Li, Y., Shi, L., Ren, J., Patti, M., Wang, T., et al (2012). Two French families with IBGC were reported with mutations at the platelet derived growth factor receptor B (PDGFRB) gene, opening a new venue for the comprehension of this phenotype as being caused by different molecular failures in mechanisms of vascular homeostasis (Nicolas et al, 2013).
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