Tamara Shiner MBChB, PhD, Gitit Kavé PhD, Anat Mirelman PhD, Keren Regev MD, Yoav Piura MD, Orly Goldstein PhD, Mali Gana Weisz PhD, Anat Bar-Shira PhD, Tanya Gurevich MD, Avi Orr-Urtreger MD, PhD, Roy N. Alcalay MD, Nir Giladi MD, Noa Bregman MD
{"title":"GBA1 基因突变和 APOE 多态性对阿什肯纳兹犹太人路易体痴呆症患者的存活率和病情发展的影响","authors":"Tamara Shiner MBChB, PhD, Gitit Kavé PhD, Anat Mirelman PhD, Keren Regev MD, Yoav Piura MD, Orly Goldstein PhD, Mali Gana Weisz PhD, Anat Bar-Shira PhD, Tanya Gurevich MD, Avi Orr-Urtreger MD, PhD, Roy N. Alcalay MD, Nir Giladi MD, Noa Bregman MD","doi":"10.1002/mds.30003","DOIUrl":null,"url":null,"abstract":"<div>\n \n \n <section>\n \n <h3> Background</h3>\n \n <p>Glucocerebrosidase 1 <i>(GBA1)</i> mutations are associated with reduced survival in Parkinson's disease but their effect on survival in dementia with Lewy bodies (DLB) is unclear.</p>\n </section>\n \n <section>\n \n <h3> Objective</h3>\n \n <p>To assess the impact of <i>GBA1</i> mutations on survival among Ashkenazi Jews with DLB, while controlling for <i>APOE</i> status.</p>\n </section>\n \n <section>\n \n <h3> Methods</h3>\n \n <p>One hundred and forty participants from Tel Aviv Medical Center, Israel were genotyped for <i>GBA1</i> mutations and <i>APOE</i> polymorphisms. Survival rates and follow-up cognitive screening scores were analyzed.</p>\n </section>\n \n <section>\n \n <h3> Results</h3>\n \n <p>\n <i>GBA1</i> mutation carriers had a two-fold increased risk of death (HR = 1.999), while <i>APOE</i> status did not independently affect survival. In a subset of patients with available clinical data (N = 63), carriers of the <i>APOE ε4</i> allele showed faster cognitive deterioration, while <i>GBA1</i> mutation carriers also declined more rapidly albeit not significantly.</p>\n </section>\n \n <section>\n \n <h3> Conclusion</h3>\n \n <p>Understanding the genetic effects on survival and progression is crucial for patient counseling and inclusion in clinical trials.</p>\n </section>\n </div>","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"39 12","pages":"2280-2285"},"PeriodicalIF":7.4000,"publicationDate":"2024-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/mds.30003","citationCount":"0","resultStr":"{\"title\":\"Effect of GBA1 Mutations and APOE Polymorphisms on Survival and Progression Among Ashkenazi Jews with Dementia with Lewy Bodies\",\"authors\":\"Tamara Shiner MBChB, PhD, Gitit Kavé PhD, Anat Mirelman PhD, Keren Regev MD, Yoav Piura MD, Orly Goldstein PhD, Mali Gana Weisz PhD, Anat Bar-Shira PhD, Tanya Gurevich MD, Avi Orr-Urtreger MD, PhD, Roy N. Alcalay MD, Nir Giladi MD, Noa Bregman MD\",\"doi\":\"10.1002/mds.30003\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div>\\n \\n \\n <section>\\n \\n <h3> Background</h3>\\n \\n <p>Glucocerebrosidase 1 <i>(GBA1)</i> mutations are associated with reduced survival in Parkinson's disease but their effect on survival in dementia with Lewy bodies (DLB) is unclear.</p>\\n </section>\\n \\n <section>\\n \\n <h3> Objective</h3>\\n \\n <p>To assess the impact of <i>GBA1</i> mutations on survival among Ashkenazi Jews with DLB, while controlling for <i>APOE</i> status.</p>\\n </section>\\n \\n <section>\\n \\n <h3> Methods</h3>\\n \\n <p>One hundred and forty participants from Tel Aviv Medical Center, Israel were genotyped for <i>GBA1</i> mutations and <i>APOE</i> polymorphisms. Survival rates and follow-up cognitive screening scores were analyzed.</p>\\n </section>\\n \\n <section>\\n \\n <h3> Results</h3>\\n \\n <p>\\n <i>GBA1</i> mutation carriers had a two-fold increased risk of death (HR = 1.999), while <i>APOE</i> status did not independently affect survival. In a subset of patients with available clinical data (N = 63), carriers of the <i>APOE ε4</i> allele showed faster cognitive deterioration, while <i>GBA1</i> mutation carriers also declined more rapidly albeit not significantly.</p>\\n </section>\\n \\n <section>\\n \\n <h3> Conclusion</h3>\\n \\n <p>Understanding the genetic effects on survival and progression is crucial for patient counseling and inclusion in clinical trials.</p>\\n </section>\\n </div>\",\"PeriodicalId\":213,\"journal\":{\"name\":\"Movement Disorders\",\"volume\":\"39 12\",\"pages\":\"2280-2285\"},\"PeriodicalIF\":7.4000,\"publicationDate\":\"2024-08-30\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://onlinelibrary.wiley.com/doi/epdf/10.1002/mds.30003\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Movement Disorders\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://onlinelibrary.wiley.com/doi/10.1002/mds.30003\",\"RegionNum\":1,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Movement Disorders","FirstCategoryId":"3","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1002/mds.30003","RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
Effect of GBA1 Mutations and APOE Polymorphisms on Survival and Progression Among Ashkenazi Jews with Dementia with Lewy Bodies
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.
期刊介绍：
Movement Disorders publishes a variety of content types including Reviews, Viewpoints, Full Length Articles, Historical Reports, Brief Reports, and Letters. The journal considers original manuscripts on topics related to the diagnosis, therapeutics, pharmacology, biochemistry, physiology, etiology, genetics, and epidemiology of movement disorders. Appropriate topics include Parkinsonism, Chorea, Tremors, Dystonia, Myoclonus, Tics, Tardive Dyskinesia, Spasticity, and Ataxia.
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