학술논문

Patterns of TDP‐43 Deposition in Brains with LRRK2 G2019S Mutations.
Document Type
Article
Source
Movement Disorders. Aug2023, Vol. 38 Issue 8, p1541-1545. 5p.
Subject
Language
ISSN
0885-3185
Abstract
Objective: To assess for TDP‐43 deposits in brains with and without a LRRK2 G2019S mutation. Background: LRRK2 G2019S mutations have been associated with parkinsonism and a wide range of pathological findings. There are no systematic studies examining the frequency and extent of TDP‐43 deposits in neuropathological samples from LRRK2 G2019S carriers. Methods: Twelve brains with LRRK2 G2019S mutations were available for study from the New York Brain Bank at Columbia University; 11 of them had samples available for TDP‐43 immunostaining. Clinical, demographic, and pathological data are reported for 11 brains with a LRRK2 G2019S mutation and compared to 11 brains without GBA1 or LRRK2 G2019S mutations with a pathologic diagnosis of Parkinson's disease (PD) or diffuse Lewy body disease. They were frequency matched by age, gender, parkinsonism age of onset, and disease duration. Results: TDP‐43 aggregates were present in 73% (n = 8) of brains with a LRRK2 mutation and 18% (n = 2) of brains without a LRRK2 mutation (P = 0.03). In one brain with a LRRK2 mutation, TDP‐43 proteinopathy was the primary neuropathological change. Conclusions: Extranuclear TDP‐43 aggregates are observed with greater frequency in LRRK2 G2019S autopsies compared to PD cases without a LRRK2 G2019S mutation. The association between LRRK2 and TDP‐43 should be further explored. © 2023 International Parkinson and Movement Disorder Society. [ABSTRACT FROM AUTHOR]