Alzheimer's - Dementia, Author Interviews, Genetic Research, JAMA, Race/Ethnic Diversity / 10.10.2016
Genetic Mutation Common In Ashkenazi Jews With Lewy Body Dementia
MedicalResearch.com Interview with:
[caption id="attachment_28675" align="alignleft" width="200"]
Dr Tamara Shiner[/caption]
Dr Tamara Shiner MD PhD
Specialist in Neurology
Neurology Division
Tel Aviv Sourasky Medical Centre
MedicalResearch.com: What is the background for this study? What are the main findings?
Response: Although in the past believed to be sporadic, there is much emerging evidence for a significant genetic contribution to Dementia with Lewy bodies (DLB). Hetrozygosity for common mutations in the GBA gene have been shown to be more frequent among DLB patients and Parkinson's disease patients than in the general population.
We found that GBA mutations are in fact exceptionally frequent among Ashkenazi Jewish (AJ) patients with Dementia with Lewy bodies. Our results indicate that one in three of all Ashkenazi DLB patients carry mutations in this specific gene (compared to approximately 6% in the general Ashkenazi Jewish population). We also found that those who carry these mutations have a more severe disease phenotype.
Dr Tamara Shiner[/caption]
Dr Tamara Shiner MD PhD
Specialist in Neurology
Neurology Division
Tel Aviv Sourasky Medical Centre
MedicalResearch.com: What is the background for this study? What are the main findings?
Response: Although in the past believed to be sporadic, there is much emerging evidence for a significant genetic contribution to Dementia with Lewy bodies (DLB). Hetrozygosity for common mutations in the GBA gene have been shown to be more frequent among DLB patients and Parkinson's disease patients than in the general population.
We found that GBA mutations are in fact exceptionally frequent among Ashkenazi Jewish (AJ) patients with Dementia with Lewy bodies. Our results indicate that one in three of all Ashkenazi DLB patients carry mutations in this specific gene (compared to approximately 6% in the general Ashkenazi Jewish population). We also found that those who carry these mutations have a more severe disease phenotype.




















