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

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

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenosine Triphosphatases / genetics*
  • Adult
  • Alkaline Phosphatase / blood
  • Arginine / genetics
  • Australia
  • Cell Cycle Proteins / genetics*
  • Creatine Kinase / blood
  • Electrodiagnosis / methods
  • Family Health*
  • Female
  • Frontotemporal Dementia / complications
  • Frontotemporal Dementia / genetics*
  • Humans
  • Inclusion Bodies / pathology*
  • Leucine / genetics
  • Magnetic Resonance Imaging / methods
  • Male
  • Middle Aged
  • Muscle, Skeletal / pathology
  • Muscular Diseases / complications
  • Muscular Diseases / genetics*
  • Mutation / genetics
  • Osteitis Deformans / complications
  • Osteitis Deformans / genetics*
  • Tryptophan / genetics
  • Valosin Containing Protein

Substances

  • Cell Cycle Proteins
  • Tryptophan
  • Arginine
  • Creatine Kinase
  • Alkaline Phosphatase
  • Adenosine Triphosphatases
  • VCP protein, human
  • Valosin Containing Protein
  • Leucine