Article
The tauopathy associated with mutation +3 in intron 10 of Tau: characterization of the MSTD family.
Brain : a journal of neurology - 1 Jan 2008
Spina Salvatore, Farlow Martin R, Unverzagt Frederick W, Kareken David A, Murrell Jill R, Fraser Graham, Epperson Francine, Crowther R Anthony, Spillantini Maria G, Goedert Michel, Ghetti Bernardino
Abstract excerpt
Multiple system tauopathy with presenile dementia (MSTD) is an inherited disease caused by a (g) to (a) transition at position +3 in intron 10 of Tau. It belongs to the spectrum of frontotemporal dementia and parkinsonism linked to chromosome 17 with mutations in Tau (FTDP-17T). Here we present the longitudinal clinical, neuropsychological, neuroimaging, neuropathological, biochemical and genetic characterization...
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