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

K.R. Kumar; M. Needham; K. Mina; M. Davis; J. Brewer; C. Staples; K. Ng; C.M. Sue; F.L. Mastaglia

doi:10.1016/j.nmd.2010.03.002

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

Journal article

Peer reviewed

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

K.R. Kumar, M. Needham, K. Mina, M. Davis, J. Brewer, C. Staples, K. Ng, C.M. Sue and F.L. Mastaglia

Neuromuscular Disorders, Vol.20(5), pp.330-334

2010

DOI: https://doi.org/10.1016/j.nmd.2010.03.002

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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.

Details

Title: Two Australian families with inclusion-body myopathy, Paget’s disease of bone and frontotemporal dementia: Novel clinical and genetic findings
Authors/Creators: K.R. Kumar (Author/Creator) - Royal North Shore Hospital
M. Needham (Author/Creator) - Royal North Shore Hospital
K. Mina (Author/Creator) - Royal Perth Hospital
M. Davis (Author/Creator) - Royal Perth Hospital
J. Brewer (Author/Creator) - Royal North Shore Hospital
C. Staples (Author/Creator) - Mater Health Services
K. Ng (Author/Creator) - Royal North Shore Hospital
C.M. Sue (Author/Creator) - Royal North Shore Hospital
F.L. Mastaglia (Author/Creator) - Queen Elizabeth II Medical Centre
Publication Details: Neuromuscular Disorders, Vol.20(5), pp.330-334
Publisher: Elsevier BV
Identifiers: 991005542292207891
Copyright: © 2010 Elsevier B.V.
Murdoch Affiliation: Murdoch University
Language: English
Resource Type: Journal article

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Collaboration types: Domestic collaboration
Citation topics: 1 Clinical & Life Sciences; 1.25 Molecular & Cell Biology - Cancer, Autophagy & Apoptosis; 1.25.782 Proteasome
Web Of Science research areas: Clinical Neurology; Neurosciences
ESI research areas: Neuroscience & Behavior