Overall mutational spectrum of SLC20A2, PDGFB and PDGFRB in idiopathic basal ganglia calcification

Neurogenetics - Tập 15 - Trang 215-216 - 2014
Gaël Nicolas1,2,3,4, Anne-Claire Richard2,3, Cyril Pottier2, Christophe Verny5, Franck Durif6, Emmanuel Roze7, Pascal Favrole8, Gabrielle Rudolf9, Mathieu Anheim9, Christine Tranchant9, Thierry Frebourg1,2, Dominique Campion2,3,10, Didier Hannequin2,3,11
1Department of Genetics, Rouen University Hospital, Rouen, France
2Inserm U1079 and IRIB, Normandie University, Rouen, France
3CNR-MAJ, Rouen, and Paris-Salpêtrière University Hospitals, Lille, Rouen, and Paris, France
4Inserm U1079, Faculté de medecine et pharmacie, Rouen Cedex 1, France
5Department of Neurology, Angers University Hospital and UMR CNRS 6214 - Inserm U1083, Angers, France
6Department of Neurology A, Clermont-Ferrand University Hospital, Clermont-Ferrand, France
7Centre de Recherche de l’Institut du Cerveau et de la Moelle Épinière, Inserm U1127, Centre de Recherche de Neurosciences-UMR 7225, Université Pierre et Marie Curie-Paris 6 UMR_S975, Paris, France
8Department of Neurology, Tenon Hospital, AP-HP, Paris, France
9Department of Neurology, Strasbourg University Hospital, Hôpital de Hautepierre, Strasbourg, France
10Department of Research, Rouvray Psychiatric Hospital, Sotteville-Lès-Rouen, France
11Department of Neurology, Rouen University Hospital, Rouen, France

Tài liệu tham khảo

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