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

Authors :
Suoranta, Sanna
Manninen, Hannu
Koskenkorva, Päivi
Könönen, Mervi
Laitinen, Rita
Lehesjoki, Anna-Elina
Kälviäinen, Reetta
Vanninen, Ritva
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