title: Radiological features of Paget disease of bone associated with VCP myopathy.
abstract: OBJECTIVE
  Mutations in the Valosin-containing protein (VCP) gene cause a unique disorder characterized by classic Paget disease of bone (PDB), inclusion body myopathy, and frontotemporal dementia (IBMPFD). Our objective was to analyze the radiographic features of PDB associated with VCP mutations since there is a dearth of literature on the PDB component of VCP disease.
  
  
  METHODS
  Radiographic bone surveys were examined in 23 individuals with VCP mutation and compared with their unaffected relatives. Laboratory testing relevant for VCP disease was performed in all individuals.
  
  
  RESULTS
  Of the 17 affected individuals with clinical manifestations of VCP disease, 16 of whom had myopathy, radiographic analysis revealed classic PDB in 11 individuals (65%). The mean age of diagnosis for myopathy was 43.8 years and for PDB was 38.1 years of age. Radiological evidence of PDB was seen in one individual (16%) amongst six clinically asymptomatic VCP mutation carriers. Alkaline phosphatase was a useful marker for diagnosing PDB in VCP disease.
  
  
  CONCLUSIONS
  Radiographic findings of classic PDB are seen in 52% of individuals carrying VCP mutations at a significantly younger age than conventional PDB. Screening for PDB is warranted in at-risk individuals because of the benefit of early treatment with the new powerful bisphosphonates that hold the potential for prevention of disease.
authors.affiliation: Department of Radiology, VA Long Beach Health Care, University of California, Irvine, CA, USA. farpourf@nychhc.org
authors.forename: Farzin
authors.initials: F
authors.lastname: Farpour
authors.forename: Jamshid
authors.initials: J
authors.lastname: Tehranzadeh
authors.forename: Sandra
authors.initials: S
authors.lastname: Donkervoort
authors.forename: Charles
authors.initials: C
authors.lastname: Smith
authors.forename: Barbara
authors.initials: B
authors.lastname: Martin
authors.forename: Pari
authors.initials: P
authors.lastname: Vanjara
authors.forename: Kathryn
authors.initials: K
authors.lastname: Osann
authors.forename: Virginia E
authors.initials: VE
authors.lastname: Kimonis
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D000328:Adult; D000368:Aged; D018797:Cell Cycle Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D018979:Myositis, Inclusion Body / Q000000981:diagnostic imaging* / Q000235:genetics*; D010001:Osteitis Deformans / Q000000981:diagnostic imaging* / Q000235:genetics*; D011859:Radiography; D000074405:Valosin Containing Protein
chemical_list: D018797:Cell Cycle Proteins; D000251:Adenosine Triphosphatases; C000614178:VCP protein, human; D000074405:Valosin Containing Protein