Format

Send to

Choose Destination
Neuromuscul Disord. 2010 May;20(5):330-4. doi: 10.1016/j.nmd.2010.03.002. Epub 2010 Mar 23.

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

Author information

1
Department of Neurology, Royal North Shore Hospital, St. Leonards, NSW 2065, Australia. kkumaradel@hotmail.com

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.

PMID:
20335036
DOI:
10.1016/j.nmd.2010.03.002
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Elsevier Science
Loading ...
Support Center