Article
TARDBP mutations in Parkinson's disease.
Parkinsonism & related disorders - 1 Mar 2013
Rayaprolu Sruti, Fujioka Shinsuke, Traynor Sharleen, Soto-Ortolaza Alexandra I, Petrucelli Leonard, Dickson Dennis W, Rademakers Rosa, Boylan Kevin B, Graff-Radford Neill R, Uitti Ryan J, Wszolek Zbigniew K, Ross Owen A
Abstract excerpt
Mutations of the TARDBP gene encoding TDP-43 protein have been shown to cause amyotrophic lateral sclerosis and have been reported to present with clinical heterogeneity including parkinsonism. In addition, TDP-43 pathology has been observed across a spectrum of neurodegenerative disorders, including Alzheimer's and Parkinson's disease. Herein we report the presence of a TDP-43 mutation in a patient with a...
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