PDGFB Partial Deletion: a New, Rare Mechanism Causing Brain Calcification with Leukoencephalopathy

@article{Nicolas2014PDGFBPD,
  title={PDGFB Partial Deletion: a New, Rare Mechanism Causing Brain Calcification with Leukoencephalopathy},
  author={Ga{\"e}l Nicolas and Anne Rovelet-Lecrux and Cyril Pottier and Olivier Martinaud and David Wallon and Louis Vernier and G{\'e}rard Landemore and Françoise Chapon and Carol Prieto-Morin and Elisabeth Tournier-Lasserve and Thierry 11 Fr{\'e}bourg and Dominique Campion and Didier Hannequin},
  journal={Journal of Molecular Neuroscience},
  year={2014},
  volume={53},
  pages={171-175}
}
Idiopathic basal ganglia calcification (IBGC) is a progressive cerebral disorder with diverse motor, cognitive, and psychiatric expression. It is inherited as an autosomal dominant trait. Three IBGC-causing genes have been identified in the past 2 years: SLC20A2, PDGFRB, and PDGFB. Biological and genetic evidence showed that loss of function of either SLC20A2 or the PDGFB/PDGFRB pathway was the mechanism underlying calcification in patients with a mutation. Recently, in a study focusing on… CONTINUE READING
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