Article
LRRK2 I2020T mutation is associated with tau pathology.
Parkinsonism & related disorders - 1 Aug 2012
Ujiie Sachiko, Hatano Taku, Kubo Shin-Ichiro, Imai Satoshi, Sato Shigeto, Uchihara Toshiki, Yagishita Saburo, Hasegawa Kazuko, Kowa Hisayuki, Sakai Fumihiko, Hattori Nobutaka
Abstract excerpt
Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene are the most common cause of autosomal-dominant familial Parkinson's disease (FPD). The variable pathological features of LRRK2-linked FPD include Lewy bodies, degeneration of anterior horn cells associated with axonal spheroids, neurofibrillary tangles (NFTs) and TAR DNA-binding protein of 43 kDa (TDP-43) positive inclusion bodies. Furthermore, abnormal...
Topics
- Brain Stem
- Female
- Humans
- Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
- Male
- Middle Aged
- Mutation
- Parkinson Disease
- Phosphorylation
- Protein Serine-Threonine Kinases