An Italian family with inclusion-body myopathy and frontotemporal dementia due to mutation in the VCP gene.
Mutations of the valosin-containing protein gene (VCP) are responsible for autosomal-dominant hereditary inclusion-body myopathy associated with frontotemporal dementia and Paget's disease of bone. We identified the p.R155C missense mutation in the VCP gene segregating in an Italian family with three affected siblings, two of whom had a progressive myopathy associated with dementia, whereas one exhibited a progressive myopathy and preclinical signs of Paget's disease of bone. Our study demonstrates that VCP mutations are found in patients of Italian background and may lead to a variable clinical phenotype even within the same kinship.
Gidaro
Teresa
T
Department of Neuroscience, Catholic University, L.go A. Gemelli 8, 00168 Rome, Italy.
Modoni
Anna
A
Sabatelli
Mario
M
Tasca
Giorgio
G
Broccolini
Aldobrando
A
Mirabella
Massimiliano
M
D000251:Adenosine Triphosphatases / Q000235:genetics*; D000328:Adult; D018797:Cell Cycle Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D003704:Dementia / Q000150:complications* / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D007558:Italy / Q000208:ethnology; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics; D018979:Myositis, Inclusion Body / Q000150:complications* / Q000235:genetics* / Q000503:physiopathology; D010001:Osteitis Deformans / Q000150:complications / Q000235:genetics / Q000503:physiopathology; D010375:Pedigree; D000074405:Valosin Containing Protein
D018797:Cell Cycle Proteins; D005819:Genetic Markers; D000251:Adenosine Triphosphatases; C000614178:VCP protein, human; D000074405:Valosin Containing Protein