| Thickened skull, scoliosis and other skeletal findings in Unverricht-Lundborg disease link cystatin B function to bone metabolism. | |
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MedLine Citation:
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PMID: 23010349 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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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. |
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Authors:
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Sanna Suoranta; Hannu Manninen; Päivi Koskenkorva; Mervi Könönen; Rita Laitinen; Anna-Elina Lehesjoki; Reetta Kälviäinen; Ritva Vanninen |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2012-8-23 |
Journal Detail:
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Title: Bone Volume: - ISSN: 1873-2763 ISO Abbreviation: Bone Publication Date: 2012 Aug |
Date Detail:
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Created Date: 2012-9-26 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8504048 Medline TA: Bone Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Copyright © 2012 Elsevier Inc. All rights reserved. |
Affiliation:
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Department of Clinical Radiology, Kuopio University Hospital, Kuopio, Finland. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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