Alzheimer Disease & Associated Disorders最新文献_第2页

Refractory Psychosis as a Red Flag for End of Life in Individuals With Dementia With Lewy Bodies: A Case Series and Re-analysis of Prior Qualitative Data. 难治性精神病是路易体痴呆患者生命终结的危险信号：一个病例系列和对先前定性数据的重新分析。

IF 1.8 4区医学

Alzheimer Disease & Associated Disorders Pub Date : 2025-01-29 DOI: 10.1097/WAD.0000000000000660

Melissa J Armstrong, James E Galvin, Carol Manning, Bradley F Boeve, Gregory M Pontone, Angela S Taylor, Bhavana Patel, Jori E Fleisher, Susan M Maixner

{"title":"Refractory Psychosis as a Red Flag for End of Life in Individuals With Dementia With Lewy Bodies: A Case Series and Re-analysis of Prior Qualitative Data.","authors":"Melissa J Armstrong, James E Galvin, Carol Manning, Bradley F Boeve, Gregory M Pontone, Angela S Taylor, Bhavana Patel, Jori E Fleisher, Susan M Maixner","doi":"10.1097/WAD.0000000000000660","DOIUrl":"10.1097/WAD.0000000000000660","url":null,"abstract":"Objectives: Many individuals with dementia with Lewy bodies (DLB) die of disease-related complications, but predicting the end of life can be challenging. We identified a phenotype associated with approaching end of life.Methods: We present 4 exemplar cases where individuals with DLB experienced refractory psychosis before death. We reviewed codebooks and quotes from 3 studies regarding end-of-life experiences in DLB to identify experiences that aligned with this phenotype.Results: In addition to the 4 cases, family caregivers in prior studies described prominent worsening of psychosis before death in some individuals with DLB. The worsening often occurred several months before death and was sometimes associated with rapid deterioration. Worsening psychosis was the prominent symptom and was not initially accompanied by cognitive or physical decline. In many cases, the refractory psychosis resulted in inpatient psychiatric hospitalization or residential care, but these scenarios were challenging because of the individual's behavior.Conclusion: Refractory psychosis in DLB, particularly out of proportion to other symptoms, may be a signal of approaching the end of life. More research is needed to understand this phenomenon and to develop effective and safe treatments for psychosis in DLB.","PeriodicalId":7679,"journal":{"name":"Alzheimer Disease & Associated Disorders","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143057482","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Feasibility and Acceptability of a Virtual "Dementia Awareness for Caregivers" Course in Brazil and India. 巴西和印度虚拟“护理人员痴呆症意识”课程的可行性和可接受性。

IF 1.8 4区医学

Alzheimer Disease & Associated Disorders Pub Date : 2025-01-20 DOI: 10.1097/WAD.0000000000000659

Raquel Luiza Santos de Carvalho, Emily Fisher, Nirupama Natarajan, Esther K Hui, Shreenila Venkatesan, Sridhar Vaitheswaran, Monisha Laksminarayanan, Paula Schimidt Brum, Renata Naylor-Batista, Elodie Bertrand, Daniel C Mograbi, Cleusa P Ferri, Charlotte Stoner, Aimee Spector

{"title":"Feasibility and Acceptability of a Virtual \"Dementia Awareness for Caregivers\" Course in Brazil and India.","authors":"Raquel Luiza Santos de Carvalho, Emily Fisher, Nirupama Natarajan, Esther K Hui, Shreenila Venkatesan, Sridhar Vaitheswaran, Monisha Laksminarayanan, Paula Schimidt Brum, Renata Naylor-Batista, Elodie Bertrand, Daniel C Mograbi, Cleusa P Ferri, Charlotte Stoner, Aimee Spector","doi":"10.1097/WAD.0000000000000659","DOIUrl":"https://doi.org/10.1097/WAD.0000000000000659","url":null,"abstract":"Objective: To establish whether a virtual dementia awareness course is feasible for caregivers of people with dementia in Brazil and India.Methods: A pre/posttest single group, multisite feasibility study, mixed methods exploratory design was applied. Primary caregivers of people with dementia in Brazil and India took a 3 to 4-hour course adapted for online delivery, with 10 to 15 caregivers. Measurements encompassed self-reports of carer competence, attitudes to dementia, and caregiver burden; satisfaction questionnaire completed immediately after the intervention; open-ended questions at 1-month follow-up to assess if caregivers applied information to caregiving role; semistructured interviews about how the intervention changed caregivers' behavior and attitudes towards dementia.Results: Of the 70 caregivers who received the intervention (Brazil = 34; India = 36), 54 (77.1%) completed postintervention outcomes, and 39 (55.7%) completed questionnaires at 1-month follow-up assessment. Significant improvements were observed in attitudes to dementia in both countries and self-perceived carer competence (in India) postintervention. The themes from the 9 semistructured interviews were: acceptability, feasibility, change of behavior/attitude, and suggestions for future sessions.Conclusions: Dementia awareness course was a feasible online intervention to improve dementia awareness among family caregivers across countries. It offers a standardized yet flexible methodology, with promising outcomes that need to be evaluated in a full randomized controlled trial.","PeriodicalId":7679,"journal":{"name":"Alzheimer Disease & Associated Disorders","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142998465","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Can Sleep Predict Conversion to Mild Cognitive Impairment and Dementia? Results From the Hellenic Longitudinal Investigation of Aging and Diet Study. 睡眠能预测轻度认知障碍和痴呆的转变吗？希腊老龄化纵向调查与饮食研究的结果。

IF 1.8 4区医学

Alzheimer Disease & Associated Disorders Pub Date : 2025-01-20 DOI: 10.1097/WAD.0000000000000661

Styliani Bairami, Nikolaos Scarmeas, Mary Yannakoulia, Efthimios Dardiotis, Paraskevi Sakka, Georgios Hadjigeorgiou, Angeliki Tsapanou, Mary H Kosmidis

{"title":"Can Sleep Predict Conversion to Mild Cognitive Impairment and Dementia? Results From the Hellenic Longitudinal Investigation of Aging and Diet Study.","authors":"Styliani Bairami, Nikolaos Scarmeas, Mary Yannakoulia, Efthimios Dardiotis, Paraskevi Sakka, Georgios Hadjigeorgiou, Angeliki Tsapanou, Mary H Kosmidis","doi":"10.1097/WAD.0000000000000661","DOIUrl":"https://doi.org/10.1097/WAD.0000000000000661","url":null,"abstract":"Objective: Sleep disturbance is considered a risk factor for cognitive decline in elderly individuals. Our aim in the current study was to investigate whether baseline sleep parameters can predict the conversion from normal cognition to mild cognitive impairment or dementia at follow-up. The Hellenic Longitudinal Investigation of Aging and Diet is a longitudinal population-based study designed to estimate the prevalence and incidence of cognitive decline and dementia in the older Greek population.Methods: A total of 955 cognitively normal older adults (aged ≥65 y) were drawn from the Hellenic Longitudinal Investigation of Aging and Diet study. A comprehensive neurological and neuropsychological assessment was conducted at baseline and a mean of 3.1 (SD = 0.85) years later, resulting in 160 individuals diagnosed with mild cognitive impairment and 34 with dementia at follow-up, whereas 761 remained cognitively normal.Results: Using Cox regression analyses, no sleep parameters increased the risk of conversion status adjusting for demographics and clinical factors. Napping, however, decreased this risk by 19.3% (P < 0.001).Conclusions: As several previous studies have proposed, napping constitutes a protective factor against cognitive decline. Thus, clinicians should encourage their elderly patients to adopt this healthy habit.","PeriodicalId":7679,"journal":{"name":"Alzheimer Disease & Associated Disorders","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142998535","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Time Delay: Searching for a Meaningful Outcome of Disease Modification in Alzheimer Disease: A Report of the Educational Symposium Held at ISPOR Europe 2023. 时间延迟：寻找阿尔茨海默病疾病改变的有意义的结果：2023年欧洲ISPOR教育研讨会报告

IF 1.8 4区医学

Alzheimer Disease & Associated Disorders Pub Date : 2025-01-10 DOI: 10.1097/WAD.0000000000000654

Anja Schiel, Niels Juul Brogaard, Julie Hahn-Pedersen, Max Schlueter, Linus Jönsson

引用次数: 0

Long-term Cognitive Trajectories in Older Adults After Surgery: A Population-based Cohort Study. 老年人手术后的长期认知轨迹：一项基于人群的队列研究。

IF 1.8 4区医学

Alzheimer Disease & Associated Disorders Pub Date : 2025-01-09 DOI: 10.1097/WAD.0000000000000655

Parthasarathy D Thirumala, Beth E Snitz, Erin Jacobsen, Chung-Chou H Chang, Yue-Fang Chang, Mary Ganguli

{"title":"Long-term Cognitive Trajectories in Older Adults After Surgery: A Population-based Cohort Study.","authors":"Parthasarathy D Thirumala, Beth E Snitz, Erin Jacobsen, Chung-Chou H Chang, Yue-Fang Chang, Mary Ganguli","doi":"10.1097/WAD.0000000000000655","DOIUrl":"https://doi.org/10.1097/WAD.0000000000000655","url":null,"abstract":"Introduction: Postoperative cognitive decline (POCD) is a common, but often unrecognized condition after surgery. We evaluate postsurgical cognitive changes in a longitudinal population-based study.Methods: The study cohort comprises an age-stratified population-based random sample of individuals aged 65+ years from a small-town region of the United States. We identified as cases those participants who, during annual assessments, self-reported having undergone surgery under general anesthesia during the preceding year. We identified as controls those who reported no surgery for at least 6 consecutive years. The outcome variable changed over time (4 y) in annual cognitive test composite scores encompassing the domains of attention/processing speed, executive function, memory, language, and visuospatial functions, which were modeled using Generalized Estimating Equations.Results: A total of 436 participants had the required cognitive data; 179 participants (cases) had undergone surgery, while 257 participants (controls) had not undergone surgery. After adjusting for age, years of education, gender, race, heart failure, irregular heartbeat, and stroke, participants who underwent surgery had a greater decline in executive function, memory, and attention over a 2-year period.Discussion: Participants who underwent surgery had a significant subsequent decline in cognitive function over the long term.","PeriodicalId":7679,"journal":{"name":"Alzheimer Disease & Associated Disorders","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142942776","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Clinical Utility and Safety of an Ultrasonic Head Stimulator in Dementia With Lewy Bodies. 超声波头部刺激器在路易体痴呆症中的临床实用性和安全性

IF 1.8 4区医学

Alzheimer Disease & Associated Disorders Pub Date : 2024-11-26 DOI: 10.1097/WAD.0000000000000652

Yuta Manabe

{"title":"Clinical Utility and Safety of an Ultrasonic Head Stimulator in Dementia With Lewy Bodies.","authors":"Yuta Manabe","doi":"10.1097/WAD.0000000000000652","DOIUrl":"10.1097/WAD.0000000000000652","url":null,"abstract":"Background: The potential of Ultra-Ma, an ultrasonic head stimulator, for the supplementary treatment of dementia with Lewy bodies (DLB) was evaluated in patients with various symptoms under poor control by drug therapy.Methods: Patients with DLB treated with choline esterase inhibitor or L-DOPA, either alone or in combination, and who met inclusion criteria were enrolled. Four weeks of placebo stimulation was followed by 8 weeks of active ultrasonic stimulation and a 4-week follow-up. Primary endpoints were the effects of ultrasonic head stimulation on both cognitive dysfunction and behavioral and psychological symptoms of dementia (BPSD). Cognitive dysfunction was evaluated using the Japanese versions of the Mini-Mental State Examination and Montreal Cognitive Assessment, and BPSD was assessed using the Neuropsychiatric Inventory Brief Questionnaire Form. For cognitive fluctuations, the Cognitive Fluctuation Inventory served as an index. Improvements in parkinsonism, activities of daily living, and caregiver burden were examined as secondary endpoints.Results: Twelve patients were enrolled. The primary endpoint was significantly improved during the active stimulation period, as were secondary endpoint ratings for parkinsonism and caregiver burden. No notable adverse events occurred.Conclusions: The findings suggest that ultrasonic head stimulation has supplementary potential when combined with drug treatment in DLB.","PeriodicalId":7679,"journal":{"name":"Alzheimer Disease & Associated Disorders","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2024-11-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11841721/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142715123","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Dementia and Its Profound Impact on Family Members and Partners: A Large UK Cross-Sectional Study. 痴呆症及其对家庭成员和伴侣的深远影响：英国一项大型横断面研究

IF 1.8 4区医学

Alzheimer Disease & Associated Disorders Pub Date : 2024-10-01 Epub Date: 2024-11-07 DOI: 10.1097/WAD.0000000000000647

R Shah, M S Salek, F M Ali, S J Nixon, K Otwombe, J R Ingram, A Y Finlay

{"title":"Dementia and Its Profound Impact on Family Members and Partners: A Large UK Cross-Sectional Study.","authors":"R Shah, M S Salek, F M Ali, S J Nixon, K Otwombe, J R Ingram, A Y Finlay","doi":"10.1097/WAD.0000000000000647","DOIUrl":"10.1097/WAD.0000000000000647","url":null,"abstract":"Introduction: Dementia can adversely affect the quality of life (QoL) of family members/partners of those affected. Measuring this often-neglected burden is critical to planning and providing appropriate support services. This study measures this impact using the Family-Reported Outcome Measure (FROM-16).Methods: A large UK cross-sectional online study through patient research platforms, recruited family members/partners of people with dementia, to complete the FROM-16.Results: Totally, 711 family members/partners (mean age=58.7 y, SD=12.5; females=81.3%) of patients (mean age=81.6, SD=9.6; females=66.9) with dementia completed the FROM-16. The FROM-16 mean total score was 17.5 (SD=6.8), meaning \"a very large effect\" on QoL of family members, with females being more adversely impacted.Conclusions: Dementia profoundly impacts the QoL of family members/partners of patients. Routine use of FROM-16 could signpost provision of care support, reducing family members' burnout. Such routine data could be used in economic analysis of the burden of dementia as well as in predicting institutionalization.","PeriodicalId":7679,"journal":{"name":"Alzheimer Disease & Associated Disorders","volume":" ","pages":"338-343"},"PeriodicalIF":1.8,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11584184/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142589945","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The Difference in Cognitive Profiles Between Patients With Alzheimer Dementia With and Without Psychosis: A Rapid Review. 有无精神病的阿尔茨海默氏症痴呆患者在认知方面的差异：快速回顾

IF 1.8 4区医学

Alzheimer Disease & Associated Disorders Pub Date : 2024-10-01 Epub Date: 2024-09-25 DOI: 10.1097/WAD.0000000000000644

Jean-François Carmel, Doris Clerc, Vincent Couture, Isabelle Reid, Ali Filali, Juan Manuel Villalpando

{"title":"The Difference in Cognitive Profiles Between Patients With Alzheimer Dementia With and Without Psychosis: A Rapid Review.","authors":"Jean-François Carmel, Doris Clerc, Vincent Couture, Isabelle Reid, Ali Filali, Juan Manuel Villalpando","doi":"10.1097/WAD.0000000000000644","DOIUrl":"10.1097/WAD.0000000000000644","url":null,"abstract":"Background: Psychosis in Alzheimer disease (AD) is a major burden for patients and their family. Identifying the characteristics of delusions and hallucinations in the AD population is key to understanding the interconnection between the psychiatric and cognitive symptoms in neurocognitive disorders. The aim of this study is to compare the cognitive profiles of AD patients with and without psychosis.Methods: We conducted a rapid review to explore the relationship between psychotic symptoms and cognitive performances in patients with AD. We used MEDLINE, Embase, and PsychINFO literature databases between January 2015 and January 2023. This rapid review was guided by the Cochrane Rapid Reviews Methods Group.Results: We identified 2909 records from the initial searches. After reviewing the titles, abstracts, and full texts, we selected 8 cross-sectional and 5 cohort studies for the qualitative analysis. Among them, 6 studies were included in the final quantitative analysis. Most studies suggested a correlation between general cognitive decline and the risk of presenting psychotic symptoms. Three studies found an association between hallucinations and deficits in the visuocognitive domains (visuospatial, visuoperceptual, and visuoconstructive skills). Two studies found a relationship between psychotic symptoms and executive dysfunction. Two studies also found a correlation between psychotic symptoms and language. Our results are in line with previous data in the literature, especially regarding the outcome of psychosis on executive function and visuocognitive abilities.Conclusions: There appears to be an association between cognitive deficits and psychotic symptoms in AD, but the direction of causality is still unclear, and further studies using longitudinal designs would give more insight into the pathophysiological process of psychosis in AD.","PeriodicalId":7679,"journal":{"name":"Alzheimer Disease & Associated Disorders","volume":" ","pages":"369-376"},"PeriodicalIF":1.8,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142339435","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Mapping the Landscape of Those Left Behind When a Person With Dementia Dies: Roles of Race and Ethnicity. 绘制痴呆症患者去世后留守人员的分布图：种族和民族的作用。

IF 1.8 4区医学

Alzheimer Disease & Associated Disorders Pub Date : 2024-10-01 Epub Date: 2024-09-23 DOI: 10.1097/WAD.0000000000000645

Zachary G Baker, SeungYong Han, Justine S Sefcik, Darina V Petrovsky, Kris Pui Kwan Ma, Matthew Lee Smith, Juanita-Dawne R Bacsu, Zahra Rahemi, Joseph Saenz

{"title":"Mapping the Landscape of Those Left Behind When a Person With Dementia Dies: Roles of Race and Ethnicity.","authors":"Zachary G Baker, SeungYong Han, Justine S Sefcik, Darina V Petrovsky, Kris Pui Kwan Ma, Matthew Lee Smith, Juanita-Dawne R Bacsu, Zahra Rahemi, Joseph Saenz","doi":"10.1097/WAD.0000000000000645","DOIUrl":"10.1097/WAD.0000000000000645","url":null,"abstract":"Introduction: People with dementia can have many family and friends who might be affected by their deaths. Pursuing the long-term aim of understanding how dementia deaths affect close family and friends, this project lays groundwork through estimates of who those close family and friends are, with special attention to race and ethnicity.Method: Regression models estimated associations between dementia, race/ethnicity, and close family and friend network size, controlling for age, sex, education, marital status, and household wealth for 1386 deceased people with dementia from the Health and Retirement Study (2004 to 2018).Results: Persons with dementia had an average of 9.4 close family and friends at death. But patterns of close family and friends were different among non-Latino Black (10.8), Latino (9.9), and non-Latino White (9.2) people with dementia at death. Notably, non-Latino White persons with dementia had the fewest close family (3.7), followed by non-Latino Black (5.1), and Latino (7.7) persons with dementia.Discussion: Knowing who might be affected by dementia deaths is the first step to explore how dementia-related deaths impact close family and friends. Future work can now sample bereaved family and friends of people with dementia to explore their experiences and develop culturally appropriate supports.","PeriodicalId":7679,"journal":{"name":"Alzheimer Disease & Associated Disorders","volume":" ","pages":"332-337"},"PeriodicalIF":1.8,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11598637/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142279118","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

G2019S Mutation of Leucine-Rich Repeat Kinase 2 Is a Cause of Lewy Body Dementia in Patients With North African Ancestors. 富亮氨酸重复激酶 2 的 G2019S 突变是北非祖先路易体痴呆症的病因之一。

IF 1.8 4区医学

Alzheimer Disease & Associated Disorders Pub Date : 2024-10-01 Epub Date: 2024-08-07 DOI: 10.1097/WAD.0000000000000643

Kurt Segers, Florence Benoit, Sophie Levy, Valérie Martinet, Joachim G Schulz, Frédéric Bertrand, Gabrielle De Bourgoing, Chiara Tatillo, Jean-Philippe Praet, Isabelle Vandernoot, Laurence Desmyter, Xavier Peyrassol, Pashalina Kehagias, Guillaume Smits, Baptiste Dumoulin, Tatiana Besse-Hammer, Bernard Dachy, Murielle Surquin

{"title":"G2019S Mutation of Leucine-Rich Repeat Kinase 2 Is a Cause of Lewy Body Dementia in Patients With North African Ancestors.","authors":"Kurt Segers, Florence Benoit, Sophie Levy, Valérie Martinet, Joachim G Schulz, Frédéric Bertrand, Gabrielle De Bourgoing, Chiara Tatillo, Jean-Philippe Praet, Isabelle Vandernoot, Laurence Desmyter, Xavier Peyrassol, Pashalina Kehagias, Guillaume Smits, Baptiste Dumoulin, Tatiana Besse-Hammer, Bernard Dachy, Murielle Surquin","doi":"10.1097/WAD.0000000000000643","DOIUrl":"10.1097/WAD.0000000000000643","url":null,"abstract":"Background: Mutations in the LRRK2 gene are the most common genetic cause of Parkinson disease but are believed to play no significant role in Lewy body disease (LBD).Objectives: As the frequency of G2019S LRRK2 mutation is extremely high in North African patients with Parkinson disease, we postulate that the high prevalence of LBD in North Africa might be due to the same mutation because LBD and Parkinson disease share many clinical, pathological, and genetic features.Methods: We screened patients with LBD or prodromal LBD for the G2019S mutation of LRRK2.Results: A total of 162 patients were tested for the mutation, which was present in 5 of the 47 patients with North African ancestors. This is a much higher prevalence (10.6%) than in healthy North African subjects (1.45%) but lower than in North African patients with Parkinson disease (36% to 39%). Carriers tended to develop more often orthostatic hypotension and swallowing problems.Conclusions: Where previous studies in European and North American patients found no link between LRRK2 mutations and LBD, we found an LRRK2 mutation associated with Lewy body disease, namely the G2019S mutation that might be restricted to patients with North African ancestors. Our study illustrates the need to introduce ethnic diversity as stratifying factor in the analysis of genetic causes of neurodegenerative disorders. The current development of disease-modifying drugs modulating LRRK2 kinase activity could justify to screen North African patients with LBD for the G2019S LRRK2 mutation.","PeriodicalId":7679,"journal":{"name":"Alzheimer Disease & Associated Disorders","volume":"38 4","pages":"328-331"},"PeriodicalIF":1.8,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142715164","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0