Article
Clinicopathologic heterogeneity in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) due to microtubule-associated protein tau (MAPT) p.P301L mutation, including a patient with globular glial tauopathy.
Neuropathology and applied neurobiology - 1 Apr 2017
Tacik P, Sanchez-Contreras M, DeTure M, Murray M E, Rademakers R, Ross O A, Wszolek Z K, Parisi J E, Knopman D S, Petersen R C, Dickson D W
Abstract excerpt
AIM: The p.P301L mutation in microtubule-associated protein tau (MAPT) is a common cause of frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). We compare clinicopathologic features of five unrelated and three related (brother, sister and cousin) patients with FTDP-17 due to p.P301L mutation. METHODS: Genealogical, clinical, neuropathologic and genetic data were reviewed from eight...
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