| Autor: |
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 |
| Zdroj: |
Movement Disorders; Dec2024, Vol. 39 Issue 12, p2280-2285, 6p |
| Abstrakt: |
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. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
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