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Thickened skull, scoliosis and other skeletal findings in Unverricht–Lundborg disease link cystatin B function to bone metabolism
- Source :
-
BONE . Dec2012, Vol. 51 Issue 6, p1016-1024. 9p. - Publication Year :
- 2012
-
Abstract
- Abstract: 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 regional calvarial thickness was measured perpendicular to each calvarial bone from T1-weighted 3-dimensional images using multiple planar reconstruction tools. All clinical X-ray files of EPM1 patients were collected and reviewed by an experienced radiologist. A total of 337 X-ray studies were analyzed, and non-traumatic structural anomalies, dysplasias and deformities were registered. Results: EPM1 patients exhibited significant thickening in all measured cranial bones compared to healthy controls. The mean skull thickness was 10.0±2.0mm in EPM1 patients and 7.6±1.2mm in healthy controls (p<0.001). The difference was evident in all age groups and was not explained by former phenytoin use. Observed abnormalities in other skeletal structures in EPM1 patients included thoracic scoliosis (35% of EPM1 patients) and lumbar spine scoliosis (35%), large paranasal sinuses (27%), accessory ossicles of the foot, and arachnodactyly (18%). Conclusions: Skull thickening and an increased prevalence of abnormal findings in skeletal radiographs of patients with EPM1 suggest that this condition is connected to defective cystatin B function. These findings further emphasize the role of cystatin B in bone metabolism in humans. [Copyright &y& Elsevier]
Details
- Language :
- English
- ISSN :
- 87563282
- Volume :
- 51
- Issue :
- 6
- Database :
- Academic Search Index
- Journal :
- BONE
- Publication Type :
- Academic Journal
- Accession number :
- 82200507
- Full Text :
- https://doi.org/10.1016/j.bone.2012.08.123