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

Kishore R. Kumar*, Merrilee Needham, Kym Mina, Mark Davis, Janice Brewer, Christopher Staples, Karl Ng, Carolyn M. Sue, Frank L. Mastaglia

*Korrespondierende/r Autor/-in für diese Arbeit
41 Zitate (Scopus)

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.

OriginalspracheEnglisch
ZeitschriftNeuromuscular Disorders
Jahrgang20
Ausgabenummer5
Seiten (von - bis)330-334
Seitenumfang5
ISSN0960-8966
DOIs
PublikationsstatusVeröffentlicht - 01.05.2010
Extern publiziertJa

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