First Japanese autopsy case showing LRRK2 mutation G2019S and TDP-43 proteinopathy

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.

Automated summary

This study reports the first Japanese autopsy case of Leucine-rich repeat kinase 2 (LRRK2) G2019S mutation with atypical TDP43 proteinopathy, suggesting that TDP43 protein may play an important role in the clinical presentation of individuals carrying the LRRK2 G2019S mutation.