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

Parkinsonism & related disorders - 1 Oct 2021

Sakuwa Mayuko, Adachi Tadashi, Suzuki Yuki, Yoshida Kentaro, Fukuda Hiroki, Miura Hiroshi, Adachi Yoshiki, Hanajima Ristuko

Abstract excerpt

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.

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Identifiers

PMID: 34543853
DOI: 10.1016/j.parkreldis.2021.09.009

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