Article
[Frontotemporal dementia (FTD) and genetic mutations including progranulin gene].
Rinsho shinkeigaku = Clinical neurology - 1 Nov 2008
Arai Tetsuaki, Hasegawa Masato, Nishihara Masugi, Nonaka Takashi, Kametani Fuyuki, Yoshida Mari, Hashizume Yoshio, Beach Thomas G, Morita Mitsuya, Nakano Imaharu, Oda Tatsuro, Tsuchiya Kuniaki, Akiyama Haruhiko
Abstract excerpt
Research on familial frontotemporal lobar degeneration (FTLD) has led to the discovery of disease-causing genes: microtubule-associated protein tau (MAPT), progranulin (PGRN) and valosin-containing protein (VCP). TAR DNA-binding protein of 43 kDa (TDP-43) has been identified as a major component of tau-negative ubiquitin-positive inclusions in familial and sporadic FTLD and amyotrophic lateral sclerosis (ALS),...
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