Atypical parkinsonism caused by Pro105Leu mutation of prion protein: A broad clinical spectrum

OBJECTIVE: To delineate molecular and clinical characteristics of 3 families with PRNP P105L mutation, a variant of Gerstmann-Sträussler-Scheinker syndrome whose main motor symptoms were parkinsonism and/or involuntary movements. METHODS: The causative mutation was first determined in the affected p...

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Detalles Bibliográficos
Autores principales: Mano, Kagari Koshi, Matsukawa, Takashi, Mitsui, Jun, Ishiura, Hiroyuki, Tokushige, Shin-ichi, Takahashi, Yuji, Sato, Naoko Saito, Nakamoto, Fumiko Kusunoki, Ichikawa, Yaeko, Nagashima, Yu, Terao, Yasuo, Shimizu, Jun, Hamada, Masashi, Uesaka, Yoshikazu, Oyama, Genko, Ogawa, Go, Yoshimura, Jun, Doi, Koichiro, Morishita, Shinichi, Tsuji, Shoji, Goto, Jun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4817902/
https://www.ncbi.nlm.nih.gov/pubmed/27066585
http://dx.doi.org/10.1212/NXG.0000000000000048

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