Literature DB >> 34543853

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

Mayuko Sakuwa1, Tadashi Adachi2, Yuki Suzuki1, Kentaro Yoshida3, Hiroki Fukuda3, Hiroshi Miura4, Yoshiki Adachi5, Ristuko Hanajima1.   

Abstract

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.
Copyright © 2021 Elsevier Ltd. All rights reserved.

Entities:  

Keywords:  Dysphagia; G2019S; LRRK2; Pathology; TDP-43

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Year:  2021        PMID: 34543853     DOI: 10.1016/j.parkreldis.2021.09.009

Source DB:  PubMed          Journal:  Parkinsonism Relat Disord        ISSN: 1353-8020            Impact factor:   4.891


  1 in total

Review 1.  LRRK2 at Striatal Synapses: Cell-Type Specificity and Mechanistic Insights.

Authors:  Patrick D Skelton; Valerie Tokars; Loukia Parisiadou
Journal:  Cells       Date:  2022-01-05       Impact factor: 7.666

  1 in total

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