title: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia linked to VCP p.Arg155Cys in a Korean family.
abstract: BACKGROUND
  Missense mutations in the valosin-containing protein (VCP) gene on chromosome 9p13.3-p12 cause inclusion body myopathy with Paget disease of bone and frontotemporal dementia (hereafter referred to as IBMPFD; OMIM 167320).
  
  
  OBJECTIVE
  To describe detailed clinical, electrophysiological, biochemical, and neuroimaging findings in IBMPFD linked to VCP p.Arg155Cys in a Korean family.
  
  
  METHODS
  Case series. Clinical, electrophysiological, biochemical, and neuroimaging findings were obtained by direct evaluation and from previous medical records.
  
  
  METHODS
  Tertiary referral hospital.
  
  
  METHODS
  Three affected family members in a Korean family.
  
  
  RESULTS
  The clinical features of myopathy, Paget disease of bone, and semantic dementia (a clinical subtype of frontotemporal dementia) in our patients were similar to those of previously reported cases. However, the brain magnetic resonance imaging features in our patients, including asymmetric anterior and lateral temporal and inferior parietal atrophy with ventricular dilatation on the affected side, differed from those of previously published features in patients with IBMPFD and in patients with typical semantic dementia who show anterior temporal and frontal atrophy.
  
  
  CONCLUSIONS
  To our knowledge, this report provides the first documented IBMPFD family in Asia and broadens the phenotypic spectrum of VCP mutation-associated frontotemporal dementia.
authors.affiliation: Department of Neurology, Pusan National University Hospital, Pusan National University School of Medicine and Medical Research Institute, Busan, Korea.
authors.forename: Eun-Joo
authors.initials: EJ
authors.lastname: Kim
authors.forename: Young-Eun
authors.initials: YE
authors.lastname: Park
authors.forename: Dae-Seong
authors.initials: DS
authors.lastname: Kim
authors.forename: Bo-Young
authors.initials: BY
authors.lastname: Ahn
authors.forename: Hyang-Sook
authors.initials: HS
authors.lastname: Kim
authors.forename: Young Hee
authors.initials: YH
authors.lastname: Chang
authors.forename: Seong-Jang
authors.initials: SJ
authors.lastname: Kim
authors.forename: Hak-Jin
authors.initials: HJ
authors.lastname: Kim
authors.forename: Ho-Won
authors.initials: HW
authors.lastname: Lee
authors.forename: William W
authors.initials: WW
authors.lastname: Seeley
authors.forename: SangYun
authors.initials: S
authors.lastname: Kim
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D000368:Aged; D019943:Amino Acid Substitution / Q000235:genetics; D001120:Arginine / Q000235:genetics; D044466:Asian People / Q000235:genetics; D018797:Cell Cycle Proteins / Q000235:genetics*; D003545:Cysteine / Q000235:genetics; D005260:Female; D057180:Frontotemporal Dementia / Q000150:complications / Q000208:ethnology / Q000235:genetics*; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics*; D018979:Myositis, Inclusion Body / Q000150:complications / Q000208:ethnology / Q000235:genetics*; D010001:Osteitis Deformans / Q000150:complications / Q000208:ethnology / Q000235:genetics*; D010375:Pedigree; D000074405:Valosin Containing Protein
chemical_list: D018797:Cell Cycle Proteins; D001120:Arginine; D000251:Adenosine Triphosphatases; C000614178:VCP protein, human; D000074405:Valosin Containing Protein; D003545:Cysteine