An Italian family with inclusion-body myopathy and frontotemporal dementia due to mutation in the VCP gene

Teresa Gidaro, Anna Modoni, Mario Sabatelli, Giorgio Tasca, Aldobrando Broccolini, Massimiliano Mirabella

Research output: Contribution to journalArticle

Abstract

Mutations of the valosin-containing protein gene (VCP) are responsible for autosomal-dominant hereditary inclusion-body myopathy associated with frontotemporal dementia and Paget's disease of bone. We identified the p.R155C missense mutation in the VCP gene segregating in an Italian family with three affected siblings, two of whom had a progressive myopathy associated with dementia, whereas one exhibited a progressive myopathy and preclinical signs of Paget's disease of bone. Our study demonstrates that VCP mutations are found in patients of Italian background and may lead to a variable clinical phenotype even within the same kinship.

Original languageEnglish
Pages (from-to)111-114
Number of pages4
JournalMuscle and Nerve
Volume37
Issue number1
DOIs
Publication statusPublished - Jan 2008

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Keywords

  • Frontotemporal dementia
  • Inclusion-body myopathy
  • Paget's disease, valosin-containing protein
  • VCP

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

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