title: [An advanced case of myopathy and dementia with a new mutation in the valosin-containing protein gene].
abstract: We report a 51-year-old man with myopathy and dementia probably caused by a novel mutation of the valosin-containing protein (VCP) gene, in the form of a p.Ala439Pro substitution. At 43 years old, he presented at least 2-year history of weakness of right ankle dorsiflexion. Findings from muscle biopsy suggested distal myopathy with rimmed vacuoles. However, no mutation in the GNE gene was identified. He complained of giving way of the knee, and muscle imaging study showed adipose tissue infiltration in the quadriceps. Ten years later, he was confined to a wheelchair and became reticent and antisocial with slightly impaired memory. A muscle CT revealed atrophy or replacement by adipose tissue in the muscles of neck, trunks and extremities muscles with laterality and variation of the degree. The magnetic resonance imaging of the brain showed bilateral frontal and temporal lobe atrophy with left dominance. Findings were compatible with inclusion body myopathy with Paget's disease of bone and frontotemporal dementia.
authors.affiliation: Department of Neurology, The Jikei University School of Medicine.
authors.forename: Tsutomu
authors.initials: T
authors.lastname: Kamiyama
authors.forename: Renpei
authors.initials: R
authors.lastname: Sengoku
authors.forename: Masayuki
authors.initials: M
authors.lastname: Sasaki
authors.forename: Yukiko
authors.initials: Y
authors.lastname: Hayashi
authors.forename: Ichizo
authors.initials: I
authors.lastname: Nishino
authors.forename: Soichiro
authors.initials: S
authors.lastname: Mochio
authors.forename: Yasuyuki
authors.initials: Y
authors.lastname: Iguchi
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D018797:Cell Cycle Proteins / Q000235:genetics*; D057180:Frontotemporal Dementia / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D049288:Muscular Dystrophies, Limb-Girdle / Q000235:genetics*; D009154:Mutation; D018979:Myositis, Inclusion Body / Q000235:genetics*; D010001:Osteitis Deformans / Q000235:genetics*; D000074405:Valosin Containing Protein
chemical_list: D018797:Cell Cycle Proteins; D000251:Adenosine Triphosphatases; C000614178:VCP protein, human; D000074405:Valosin Containing Protein