Thickened skull, scoliosis and other skeletal findings in Unverricht-Lundborg disease link cystatin B function to bone metabolism.

@article{Suoranta2012ThickenedSS,
  title={Thickened skull, scoliosis and other skeletal findings in Unverricht-Lundborg disease link cystatin B function to bone metabolism.},
  author={Sanna Suoranta and Hannu I. Manninen and P{\"a}ivi Koskenkorva and Mervi K{\"o}n{\"o}nen and Rita Laitinen and A E Lehesjoki and Reetta K{\"a}lvi{\"a}inen and Ritva Vanninen},
  journal={Bone},
  year={2012},
  volume={51 6},
  pages={1016-24}
}
PURPOSE Unverricht-Lundborg disease (EPM1) is a rare type of inherited progressive myoclonic epilepsy resulting from mutations in the cystatin B gene, CSTB, which encodes a cysteine cathepsin inhibitor. Cystatin B, cathepsin K, and altered osteoclast bone resorption activity are interconnected in vitro. This study evaluated the skeletal characteristics of patients with EPM1. METHODS Sixty-six genetically verified EPM1 patients and 50 healthy controls underwent head MRI. Skull dimensions and… CONTINUE READING

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