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Effect of GBA1 Mutations and APOE Polymorphisms on Survival and Progression Among Ashkenazi Jews with Dementia with Lewy Bodies.

Authors :
Shiner, Tamara
Kavé, Gitit
Mirelman, Anat
Regev, Keren
Piura, Yoav
Goldstein, Orly
Gana Weisz, Mali
Bar‐Shira, Anat
Gurevich, Tanya
Orr‐Urtreger, Avi
Alcalay, Roy N.
Giladi, Nir
Bregman, Noa
Source :
Movement Disorders. Aug2024, p1. 5p. 1 Illustration.
Publication Year :
2024

Abstract

Background Objective Methods Results Conclusion Glucocerebrosidase 1 (GBA1) mutations are associated with reduced survival in Parkinson's disease but their effect on survival in dementia with Lewy bodies (DLB) is unclear.To assess the impact of GBA1 mutations on survival among Ashkenazi Jews with DLB, while controlling for APOE status.One hundred and forty participants from Tel Aviv Medical Center, Israel were genotyped for GBA1 mutations and APOE polymorphisms. Survival rates and follow‐up cognitive screening scores were analyzed.GBA1 mutation carriers had a two‐fold increased risk of death (HR = 1.999), while APOE status did not independently affect survival. In a subset of patients with available clinical data (N = 63), carriers of the APOE ε4 allele showed faster cognitive deterioration, while GBA1 mutation carriers also declined more rapidly albeit not significantly.Understanding the genetic effects on survival and progression is crucial for patient counseling and inclusion in clinical trials. © 2024 The Author(s). <italic>Movement Disorders</italic> published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
08853185
Database :
Academic Search Index
Journal :
Movement Disorders
Publication Type :
Academic Journal
Accession number :
179312288
Full Text :
https://doi.org/10.1002/mds.30003