Article
Novel ubiquitin neuropathology in frontotemporal dementia with valosin-containing protein gene mutations.
Journal of neuropathology and experimental neurology - 1 Jun 2006
Forman Mark S, Mackenzie Ian R, Cairns Nigel J, Swanson Eric, Boyer Philip J, Drachman David A, Jhaveri Bharati S, Karlawish Jason H, Pestronk Alan, Smith Thomas W, Tu Pang-Hsien, Watts Giles D J, Markesbery William R, Smith Charles D, Kimonis Virginia E
Abstract excerpt
Frontotemporal dementia (FTD) with inclusion body myopathy and Paget disease of bone (IBMPFD) is a rare, autosomal-dominant disorder caused by mutations in the valosin-containing protein (VCP) gene, a member of the AAA-ATPase gene superfamily. The neuropathology associated with sporadic FTD is heterogeneous and includes tauopathies and frontotemporal lobar degeneration with ubiquitin-positive inclusions (FTLD-U)....
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