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 מקורית | אנגלית |
---|---|
עמודים (מ-עד) | 2280-2285 |
מספר עמודים | 6 |
כתב עת | Movement Disorders |
כרך | 39 |
מספר גיליון | 12 |
תאריך מקוון מוקדם | 30 אוג׳ 2024 |
מזהי עצם דיגיטלי (DOIs) | |
סטטוס פרסום | פורסם - דצמ׳ 2024 |