Article
Frontotemporal dementia with parkinsonism linked to chromosome 17 with the MAPT R406W mutation presenting with a broad distribution of abundant senile plaques.
Neuropathology : official journal of the Japanese Society of Neuropathology - 1 Feb 2015
Ishida Chiho, Kobayashi Katsuji, Kitamura Tatsuru, Ujike Hiroshi, Iwasa Kazuo, Yamada Masahito
Abstract excerpt
We report the autopsy results of a patient with familial dementia who was diagnosed as having frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) with an R406W mutation in the microtubule-associated protein tau (MAPT) gene. This patient showed Alzheimer's disease (AD)-like clinical manifestations from the age of 59, with reduced β-amyloid1-42 (Aβ42 ) and elevated total and phosphorylated...
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