ملخص
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.
اللغة الأصلية | الإنجليزيّة |
---|---|
الصفحات (من إلى) | 2280-2285 |
عدد الصفحات | 6 |
دورية | Movement Disorders |
مستوى الصوت | 39 |
رقم الإصدار | 12 |
تاريخ مبكر على الإنترنت | 30 أغسطس 2024 |
المعرِّفات الرقمية للأشياء | |
حالة النشر | نُشِر - ديسمبر 2024 |