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

Tamara Shiner, Gitit Kavé, Anat Mirelman, Keren Regev, Yoav Piura, Orly Goldstein, Mali Gana Weisz, Anat Bar-Shira, Tanya Gurevich, Avi Orr-Urtreger, Roy N Alcalay, Nir Giladi, Noa Bregman

פרסום מחקרי: פרסום בכתב עתמאמרביקורת עמיתים

תקציר

BACKGROUND: 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.

OBJECTIVE: To assess the impact of GBA1 mutations on survival among Ashkenazi Jews with DLB, while controlling for APOE status.

METHODS: 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.

RESULTS: 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.

CONCLUSION: Understanding the genetic effects on survival and progression is crucial for patient counseling and inclusion in clinical trials.

שפה מקוריתאנגלית
עמודים (מ-עד)2280-2285
מספר עמודים6
כתב עתMovement Disorders
כרך39
מספר גיליון12
תאריך מקוון מוקדם30 אוג׳ 2024
מזהי עצם דיגיטלי (DOIs)
סטטוס פרסוםפורסם - דצמ׳ 2024

הערה ביבליוגרפית

© 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

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