References
Hsu SC, Sears RL, Lemos RR et al (2013) Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification. Neurogenetics 14(1):11–22
Yamada M, Tanaka M, Takagi M et al (2014) Evaluation of SLC20A2 mutations that cause idiopathic basal ganglia calcification in Japan. Neurology 82(8):705–712
Nicolas G, Jacquin A, Thauvin-Robinet C et al (2014) A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystonia. Eur J Hum Genet. doi:10.1038/ejhg.2014.9
Nicolas G, Guillin O, Borden A et al (2013) A response to the letter by Oliveira et al. Gen Hosp Psychiatry 35(2):212
Nicolas G, Pottier C, Charbonnier C et al (2013) Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification. Brain 136(Pt 11):3395–3407
Yamada M, Asano T, Okamoto K et al (2012) High frequency of calcification in basal ganglia on brain computed tomography images in Japanese older adults. Geriatr Gerontol Int 13(3):706–710
Keller A, Westenberger A, Sobrido MJ et al (2013) Mutations in the gene encoding PDGF-B cause brain calcification in humans and mice. Nat Genet 45(9):1077–1082
Nicolas G, Rovelet-Lecrux A, Pottier C et al (2014) PDGFB partial deletion: a new, rare mechanism causing brain calcification with leukoencephalopathy. J Mol Neurosci. doi:10.1007/s12031-014-0265-z
Baker M, Strongosky AJ, Sanchez-Contreras MY et al (2014) SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia. Neurogenetics 15(1):23–30
Acknowledgments
We are grateful to Tracey Avequin for her help in editing the manuscript. This work was supported by grants from the French Ministry of Health to the CNR-MAJ and sponsored by the University Hospital of Rouen.
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Nicolas, G., Richard, AC., Pottier, C. et al. Overall mutational spectrum of SLC20A2, PDGFB and PDGFRB in idiopathic basal ganglia calcification. Neurogenetics 15, 215–216 (2014). https://doi.org/10.1007/s10048-014-0404-2
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DOI: https://doi.org/10.1007/s10048-014-0404-2