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Neuromuscul Disord. 2013 Feb;23(2):149-54. doi: 10.1016/j.nmd.2012.09.009. Epub 2012 Nov 8.

Novel valosin containing protein mutation in a Swiss family with hereditary inclusion body myopathy and dementia.

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  • 1Department of Neurology, University Hospital of Basel, Switzerland; Department of Biomedicine, University Hospital of Basel, Switzerland. peyera@uhbs.ch

Abstract

Inclusion body myopathy associated with Paget's disease of the bone and frontotemporal dementia is a rare but highly penetrant autosomal dominant progressive disorder linked to mutations in valosin containing protein (VCP). Here, we characterize a novel mutation in the linker 1 domain of VCP leading to inclusion body myopathy and/or frontotemporal dementia in 3 generations of a Swiss family. A detailed history of several years of clinical follow-up and electrophysiological, radiological and pathological findings are presented. Five out of 6 individuals suffered from progressive myopathy and 2 out of 6 from frontotemporal dementia, respectively. A radiologically suspected Paget's disease of the bone could not been confirmed at autopsy. This case study illustrates that only a subset of individuals shows the full triad of the disease complex and that clinicopathological findings are - when interpreted apart from familial history - hard to distinguish from sporadic inclusion body myositis.

Copyright © 2012 Elsevier B.V. All rights reserved.

PMID:
23140793
[PubMed - indexed for MEDLINE]
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