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http://purl.uniprot.org/citations/23010349http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/23010349http://www.w3.org/2000/01/rdf-schema#comment"

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."xsd:string
http://purl.uniprot.org/citations/23010349http://purl.org/dc/terms/identifier"doi:10.1016/j.bone.2012.08.123"xsd:string
http://purl.uniprot.org/citations/23010349http://purl.uniprot.org/core/author"Lehesjoki A.E."xsd:string
http://purl.uniprot.org/citations/23010349http://purl.uniprot.org/core/author"Laitinen R."xsd:string
http://purl.uniprot.org/citations/23010349http://purl.uniprot.org/core/author"Kononen M."xsd:string
http://purl.uniprot.org/citations/23010349http://purl.uniprot.org/core/author"Kalviainen R."xsd:string
http://purl.uniprot.org/citations/23010349http://purl.uniprot.org/core/author"Vanninen R."xsd:string
http://purl.uniprot.org/citations/23010349http://purl.uniprot.org/core/author"Manninen H."xsd:string
http://purl.uniprot.org/citations/23010349http://purl.uniprot.org/core/author"Koskenkorva P."xsd:string
http://purl.uniprot.org/citations/23010349http://purl.uniprot.org/core/author"Suoranta S."xsd:string
http://purl.uniprot.org/citations/23010349http://purl.uniprot.org/core/date"2012"xsd:gYear
http://purl.uniprot.org/citations/23010349http://purl.uniprot.org/core/name"Bone"xsd:string
http://purl.uniprot.org/citations/23010349http://purl.uniprot.org/core/pages"1016-1024"xsd:string
http://purl.uniprot.org/citations/23010349http://purl.uniprot.org/core/title"Thickened skull, scoliosis and other skeletal findings in Unverricht-Lundborg disease link cystatin B function to bone metabolism."xsd:string
http://purl.uniprot.org/citations/23010349http://purl.uniprot.org/core/volume"51"xsd:string
http://purl.uniprot.org/citations/23010349http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/23010349
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