title: Psychiatric Presentation of Frontotemporal Dementia Associated with Inclusion Body Myopathy due to the VCP Mutation (R155H) in a French Family.
abstract: BACKGROUND
  Inclusion body myopathy with Paget's disease of the bone and frontotemporal dementia (IBMPFD) is a rare late-onset autosomal dominant disorder due to a mutation of the valosin-containing protein (VCP) gene.
  
  
  METHODS
  We report the case of a patient who developed progressive weakness of the limbs in his fifties, until he was confined to a wheelchair. At that time, he developed acute behavioural changes including irritability, severe anxiety and major depression, which led to him being hospitalised in a psychiatric hospital. He also suffered from aphasia and executive function impairment, which helped us to diagnose a behavioural form of frontotemporal dementia (FTD). The diagnosis of IBMPFD due to a mutation in the VCP gene was confirmed by a genetic study of the VCP gene (R155H mutation).
  
  
  CONCLUSIONS
  THE CLINICAL DIAGNOSIS OF IBMPFD IS SUGGESTED BY THE PRESENCE OF AT LEAST ONE OF THREE MAJOR MANIFESTATIONS AS FOLLOWS: inclusion body myopathy (mean onset at 42 years of age), Paget's disease of the bone and FTD (mean onset at 55 years of age). It is mostly the behavioural form of FTD (behavioural changes, executive dysfunction and aphasia). One interesting finding in our report is the predominance of the psychiatric symptoms at the beginning of the behavioural changes, which led to the diagnosis of FTD. The diagnosis of IBMPFD was confirmed by the genetic study: the R155H mutation found on exon 5 domain CDC48 is the most frequent of the 18 known mutations in the VCP gene.
authors.affiliation: Memory Centre, Department of Neurology, Centre Georges François Leclerc, University Hospital, Dijon, France ; Neurophysiology, Department of Neurology, Centre Georges François Leclerc, University Hospital, Dijon, France.
authors.forename: Agnès
authors.initials: A
authors.lastname: Jacquin
authors.affiliation: Memory Centre, Department of Neurology, Centre Georges François Leclerc, University Hospital, Dijon, France.
authors.forename: Olivier
authors.initials: O
authors.lastname: Rouaud
authors.affiliation: Neurophysiology, Department of Neurology, Centre Georges François Leclerc, University Hospital, Dijon, France.
authors.forename: Pierre
authors.initials: P
authors.lastname: Soichot
authors.affiliation: Memory Centre, Department of Neurology, Centre Georges François Leclerc, University Hospital, Dijon, France.
authors.forename: Yannick
authors.initials: Y
authors.lastname: Bejot
authors.affiliation: Department of Nuclear Medicine, Centre Georges François Leclerc, University Hospital, Dijon, France.
authors.forename: Inna
authors.initials: I
authors.lastname: Dygai-Cochet
authors.affiliation: Memory Centre, Department of Neurology, Hôpital de la Pitié-Salpêtrière, AP-HP, Paris, France.
authors.forename: Marie
authors.initials: M
authors.lastname: Sarazin
authors.affiliation: Institut de myologie, Centre de références des affections neuromusculaires, Hôpital de la Pitié-Salpêtrière, AP-HP, Paris, France.
authors.forename: Tania
authors.initials: T
authors.lastname: Stojkovic
authors.affiliation: Neurophysiology, Department of Neurology, Centre Georges François Leclerc, University Hospital, Dijon, France.
authors.forename: Martine
authors.initials: M
authors.lastname: Lemesle-Martin
authors.affiliation: Memory Centre, Department of Neurology, Centre Georges François Leclerc, University Hospital, Dijon, France ; Neurophysiology, Department of Neurology, Centre Georges François Leclerc, University Hospital, Dijon, France.
authors.forename: Maurice
authors.initials: M
authors.lastname: Giroud
authors.affiliation: Memory Centre, Department of Neurology, Centre Georges François Leclerc, University Hospital, Dijon, France ; Neurophysiology, Department of Neurology, Centre Georges François Leclerc, University Hospital, Dijon, France.
authors.forename: Thibault
authors.initials: T
authors.lastname: Moreau
keywords: Frontotemporal dementia; Inclusion body myopathy; Psychiatric disorders; VCP mutation