Journal
PARKINSONISM & RELATED DISORDERS
Volume 91, Issue -, Pages 85-87Publisher
ELSEVIER SCI LTD
DOI: 10.1016/j.parkreldis.2021.09.009
Keywords
LRRK2; G2019S; Pathology; TDP-43; Dysphagia
Categories
Funding
- [JP20K07783]
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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.
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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