LRRK2 p.Ile1371Val Mutation in a Case with Neuropathologically Confirmed Multi-System Atrophy
Journal of Parkinson s Disease2018Vol. 8(1), pp. 93–100
Citations Over TimeTop 14% of 2018 papers
Kelsey Lee, Khanh-Dung H. Nguyen, Chao Sun, Mei Liu, Faria Zafar, Jimmy Saetern, Adrian Flierl, James W. Tetrud, J. William Langston, Dennis W. Dickson, Birgitt Schüle
Abstract
Our data suggest that genetic variants in the LRRK2 gene can present clinically and neuropathologically as MSA. One other LRRK2 genetic variant (LRRK2, p.Ile2020Thr) has been reported with a neuropathological diagnosis of MSA. Interestingly, the LRRK2 variant (LRRK2, p.Ile1371Val) identified here has been reported previously in a postmortem case with Lewy body PD.Future studies are critical to discover the mechanisms leading to different neurodegenerative trajectories both in neuronal and glial cell populations.
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