Mutations at the SLC20A2 gene and brain resilience in families with idiopathic basal ganglia calcification ("Fahr's disease")

Affiliations

Danyllo F de Oliveira et al. Front Hum Neurosci. 2013.

. 2013 Aug 5:7:420.

doi: 10.3389/fnhum.2013.00420. eCollection 2013.

No abstract available

Comment on

Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis.
Wang C, Li Y, Shi L, Ren J, Patti M, Wang T, de Oliveira JR, Sobrido MJ, Quintáns B, Baquero M, Cui X, Zhang XY, Wang L, Xu H, Wang J, Yao J, Dai X, Liu J, Zhang L, Ma H, Gao Y, Ma X, Feng S, Liu M, Wang QK, Forster IC, Zhang X, Liu JY. Wang C, et al. Nat Genet. 2012 Feb 12;44(3):254-6. doi: 10.1038/ng.1077. Nat Genet. 2012. PMID: 22327515

1. Argylean M., Carbon M., Niethammer M., Ulug A. M., Voss H. U., Bressman S. B., et al. (2009). Cerebellothalamocortical connectivity regulates Penetrance in dystonia. J. Neurosci. 31, 9740–9747 10.1523/JNEUROSCI.2300-09.2009 - DOI - PMC - PubMed
1. Burga A., Casanueva O. M., Lehner B. (2011). Predicting mutation outcome from early stochastic variation in genetic interaction partners. Nature 7376, 250–253 10.1038/nature10665 - DOI - PubMed
1. Geschwind D. H., Loginov M., Stern J. M. (1999). Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr's Disease). Am. J. Hum. Genet. 65, 764–672 10.1086/302558 - DOI - PMC - PubMed
1. Hsu S. C., Sears R. L., Lemos R. R., Quintáns B., Huang A., Spiteri E., et al. (2013). Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification. Neurogenetics 14, 11–22 10.1007/s10048-012-0349-2 - DOI - PMC - PubMed
1. Lemos R. R., Oliveira D. F., Zatz M., Oliveira J. R. M. (2011). Population and computational analysis of the P521A MGEA6 variation as a risk factor for idiopathic basal ganglia calcification (Fahr's Disease). J. Mol. Neurosci. 43, 333–336 - PubMed