Article
Mutant valosin-containing protein causes a novel type of frontotemporal dementia.
Annals of neurology - 1 Mar 2005
Schröder Rolf, Watts Giles D J, Mehta Sarju G, Evert Bernd O, Broich Petra, Fliessbach Klaus, Pauls Katharina, Hans Volkmar H, Kimonis Virginia, Thal Dietmar R
Abstract excerpt
Mutations in the valosin-containing protein (VCP) gene on chromosome 9p13-p12 recently have been shown to cause autosomal dominant inclusion body myopathy associated with Paget's disease of the bone and frontotemporal dementia. Here, we report the central nervous system autopsy findings in a 55-year-old German patient with inclusion body myopathy and frontotemporal dementia who harbors a heterozygous R155C...
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