title: A novel mutation in the VCP gene (G157R) in a German family with inclusion-body myopathy with Paget disease of bone and frontotemporal dementia.
abstract: Mutations in the valosin-containing protein (VCP) are known to cause autosomal-dominant inclusion-body myopathy with Paget's disease of bone and frontotemporal dementia (IBMPFD). We report a novel missense mutation (G157R) in the N-terminal region of the VCP gene in a German family. Family members presented with mild to moderate proximal muscle weakness, Paget disease of bone, and signs of early cognitive decline, with onset in the fourth decade. Two family members also showed signs of early hearing impairment, which was confirmed to be sensorineural in one person, a symptom not yet described in the context of IBMPFD.
authors.affiliation: Department of Neurology, Medical University of Vienna; Währinger Gürtel 18-20, Vienna A-1097, Austria.
authors.forename: Atbin
authors.initials: A
authors.lastname: Djamshidian
authors.forename: Jochen
authors.initials: J
authors.lastname: Schaefer
authors.forename: Dietrich
authors.initials: D
authors.lastname: Haubenberger
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Stogmann
authors.forename: Friedrich
authors.initials: F
authors.lastname: Zimprich
authors.forename: Eduard
authors.initials: E
authors.lastname: Auff
authors.forename: Alexander
authors.initials: A
authors.lastname: Zimprich
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D000328:Adult; D001120:Arginine / Q000235:genetics*; D018797:Cell Cycle Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D003704:Dementia / Q000150:complications / Q000235:genetics; D005192:Family Health; D005260:Female; D005858:Germany; D005998:Glycine / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics*; D018979:Myositis, Inclusion Body / Q000150:complications / Q000235:genetics*; D010001:Osteitis Deformans / Q000150:complications / Q000235:genetics; D000074405:Valosin Containing Protein
chemical_list: D018797:Cell Cycle Proteins; D001120:Arginine; D000251:Adenosine Triphosphatases; C000614178:VCP protein, human; D000074405:Valosin Containing Protein; D005998:Glycine