Murdoch University Research Repository

Welcome to the Murdoch University Research Repository

The Murdoch University Research Repository is an open access digital collection of research
created by Murdoch University staff, researchers and postgraduate students.

Learn more

Two Australian families with inclusion-body myopathy, Paget’s disease of bone and frontotemporal dementia: Novel clinical and genetic findings

Kumar, K.R., Needham, M., Mina, K., Davis, M., Brewer, J., Staples, C., Ng, K., Sue, C.M. and Mastaglia, F.L. (2010) Two Australian families with inclusion-body myopathy, Paget’s disease of bone and frontotemporal dementia: Novel clinical and genetic findings. Neuromuscular Disorders, 20 (5). pp. 330-334.

Link to Published Version: http://dx.doi.org/10.1016/j.nmd.2010.03.002
*Subscription may be required

Abstract

We report the first Australian families with inclusion-body myopathy, Paget’s disease of the bone and frontotemporal dementia (IBMPFD). The clinical characteristics of the two pedigrees are described including a previously undescribed phenotypic feature of pyramidal tract dysfunction in one family member. A novel mutation in the valosin-containing protein (VCP) gene (p.Arg155Leu) was found in one family while the other family had a previously reported mutation (p.Leu198Trp). Our findings broaden the phenotypic spectrum of IBMPFD and further emphasise the resemblance to amyotrophic lateral sclerosis in some cases.

Item Type: Journal Article
Publisher: Elsevier BV
Copyright: © 2010 Elsevier B.V.
URI: http://researchrepository.murdoch.edu.au/id/eprint/25511
Item Control Page Item Control Page