Article
Analyses of the MAPT, PGRN, and C9orf72 mutations in Japanese patients with FTLD, PSP, and CBS.
Parkinsonism & related disorders - 1 Jan 2013
Ogaki Kotaro, Li Yuanzhe, Takanashi Masashi, Ishikawa Kei-Ichi, Kobayashi Tomonori, Nonaka Takashi, Hasegawa Masato, Kishi Masahiko, Yoshino Hiroyo, Funayama Manabu, Tsukamoto Tetsuro, Shioya Keiichi, Yokochi Masayuki, Imai Hisamasa, Sasaki Ryogen, Kokubo Yasumasa, Kuzuhara Shigeki, Motoi Yumiko, Tomiyama Hiroyuki, Hattori Nobutaka
Abstract excerpt
BACKGROUND: Mutations in the microtubule associated protein tau (MAPT) and progranulin (PGRN) have been identified in several neurodegenerative disorders, such as frontotemporal lobar degeneration (FTLD), progressive supranuclear palsy (PSP), and corticobasal syndrome (CBS). Recently, C9orf72 repeat expansion was reported to cause FTLD and amyotrophic lateral sclerosis (ALS). To date, no comprehensive analyses of...
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