首页 | 本学科首页   官方微博 | 高级检索  
检索        


First Japanese autopsy case showing LRRK2 mutation G2019S and TDP-43 proteinopathy
Institution:1. Chulalongkorn Centre of Excellence for Parkinson''s Disease and Related Disorders, Department of Medicine, Faculty of Medicine, Chulalongkorn University and King Chulalongkorn Memorial Hospital, Thai Red Cross Society, Bangkok, Thailand;2. Parkinson Foundation International Centre of Excellence, Kings College Hospital and Kings College, Denmark Hill Campus, London, United Kingdom;3. Department of Neurology, University Medical Centre, Groningen, Netherlands;4. The Academy of Science, The Royal Society of Thailand, Bangkok, Thailand;1. Neurology Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy;2. Neuroimaging Research Unit, Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, Italy;3. Neurorehabilitation Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy;4. Neurophysiology Service, IRCCS San Raffaele Scientific Institute, Milan, Italy;5. Vita-Salute San Raffaele University, Milan, Italy;1. Department of Neurology, Mayo Clinic, Rochester, MN, USA;2. Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA;3. Center for Sleep Medicine, Division of Pulmonary and Critical Care Medicine, Department of Medicine, Mayo Clinic, Rochester, MN, USA;4. Department of Radiology, Mayo Clinic, Rochester, MN, USA;1. Department of Clinical Pharmacology and Therapeutics, Ehime University Graduate School of Medicine, Tohon, Ehime, Japan;2. Department of Neurology, Saiseikai Matsuyama Hospital, Matsuyama, Ehime, Japan
Abstract:This is the first Japanese autopsy case of Leucine-rich repeat kinase 2 (LRRK2) G2019S mutation with atypical TDP43 proteinopathy. Our case is important that presented clinically dysphagia and pathologically TDP-43 proteinopathy. TDP43 may play an important role of clinical presentation with LRRK2 G2019S mutation carriers.
Keywords:LRRK2  G2019S  Pathology  TDP-43  Dysphagia
本文献已被 ScienceDirect 等数据库收录!
设为首页 | 免责声明 | 关于勤云 | 加入收藏

Copyright©北京勤云科技发展有限公司  京ICP备09084417号