Article
Mutational analysis in early-onset familial dementia in the Japanese population. The role of PSEN1 and MAPT R406W mutations.
Dementia and geriatric cognitive disorders - 1 Jan 2008
Ikeuchi Takeshi, Kaneko Hiroyuki, Miyashita Akinori, Nozaki Hiroaki, Kasuga Kensaku, Tsukie Tamao, Tsuchiya Miyuki, Imamura Toru, Ishizu Hideki, Aoki Kenju, Ishikawa Atsushi, Onodera Osamu, Kuwano Ryozo, Nishizawa Masatoyo
Abstract excerpt
BACKGROUND: Three major causative genes have been implicated as the cause of early-onset familial Alzheimer's disease (AD): the amyloid precursor protein gene (APP), presenilin-1 (PSEN1) and PSEN2. Although rare, a tau-related dementia with mutations in the microtubule-associated protein tau gene (MAPT) has been identified in patients showing clinical presentations similar to those of AD. METHODS: We performed...
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