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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 Q3 CLINICAL NEUROLOGY Pub Date : 2025-01-01 Epub 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

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.

目的:探讨虚拟痴呆认知课程在巴西和印度痴呆患者护理人员中是否可行。方法:采用单组、多点、混合方法的探索性设计。在巴西和印度,痴呆症患者的主要护理人员参加了一个3到4小时的在线课程,有10到15名护理人员参加。测量包括自我报告的照顾者能力、对痴呆症的态度和照顾者负担;干预后立即完成满意度问卷;随访1个月,采用开放式问题评估照顾者是否将信息应用于照顾角色;关于干预如何改变护理者对痴呆症的行为和态度的半结构化访谈。结果:在接受干预的70名护理人员中(巴西= 34;印度= 36),54例(77.1%)完成干预后结局,39例(55.7%)完成1个月随访评估问卷。干预后,两国对痴呆症的态度和自我感知的护理能力(印度)均有显著改善。9个半结构化访谈的主题是:可接受性、可行性、行为/态度的改变以及对未来会议的建议。结论:痴呆意识课程是一种可行的在线干预措施,可以提高各国家庭照顾者对痴呆的认识。它提供了一种标准化但灵活的方法,其有希望的结果需要在完全随机对照试验中进行评估。
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引用次数: 0
Survival of Patients at a Neurology Clinic: No Improvement Over 12 Years. 神经内科门诊患者的生存率:12年无改善。
IF 1.8 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2025-01-01 Epub Date: 2025-01-30 DOI: 10.1097/WAD.0000000000000658
Kyle Steenland, Youran Tan, Shirley M Mullins, Taylor E Kidd, Qiyun Gong, James J Lah

Introduction: We previously followed Emory patients with neurodegenerative disease from 1993 to 2006. Here, we follow survivor and new patients for 2007 to 2018.

Methods: We studied mortality from 10 different diagnostic groups among 4322 research volunteers, and compared mortality rates to controls with normal cognition, using Cox regression. We assessed mortality through the National Death Index, controlling for sex, education, race, comorbidities, and age. Supplemental analyses considered APOE and cognitive test scores.

Results: Fifty-nine percent of patients died during follow-up. Mortality rate ratios, compared with controls (n=641) in descending order were 12.54, 6.61, 4.77, 4.92, 3.36, 2.25, 2.21 1.71, 1.39, and 1.17 for diagnostic groups ALS, (n=571), FTD (n=197), LBD (n=134), PD (n=584), AD (n=1118), MCI/dementia (n=82), dementia not specified (n=165), PD symptoms (n=256), vascular dementia (n=234), and MCI (n=340), respectively. Women, non-whites, those with higher education, with no comorbidities, and lower ages had lower mortality rates for most diagnostic groups. Mortality rates were higher in the presence of APOE4 variants for several diagnostic groups. Lower MMSEs predicted worse survival for most diseases. Overall, 41% of patients survived during 12 years of follow-up, compared with an expected 75% in the US population.

Conclusion: Survival times for different diagnostic groups have changed little over several decades.

我们之前从1993年到2006年对埃默里大学的神经退行性疾病患者进行了随访。在这里,我们跟踪2007年至2018年的幸存者和新患者。方法:对4322名研究志愿者中10个不同诊断组的死亡率进行研究,并使用Cox回归将死亡率与认知正常的对照组进行比较。我们通过国家死亡指数评估死亡率,控制性别、教育、种族、合并症和年龄。补充分析考虑了APOE和认知测试分数。结果:59%的患者在随访期间死亡。与对照组(n=641)相比,诊断组(n=641)的死亡率由高到低依次为12.54、6.61、4.77、4.92、3.36、2.25、2.21、1.71、1.39和1.17,分别为ALS (n=571)、FTD (n=197)、LBD (n=134)、PD (n=584)、AD (n=1118)、MCI/痴呆(n=82)、未明确痴呆(n=165)、PD症状(n=256)、血管性痴呆(n=234)和MCI (n=340)。在大多数诊断组中,女性、非白人、受过高等教育、无合并症和年龄较低的人的死亡率较低。在几个诊断组中,APOE4变异的死亡率更高。较低的mmse预示着大多数疾病的较差生存率。总体而言,在12年的随访中,41%的患者存活,而美国人口的预期存活率为75%。结论:几十年来,不同诊断组的生存时间变化不大。
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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 Q3 CLINICAL NEUROLOGY Pub Date : 2025-01-01 Epub 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

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.

术后认知能力下降(POCD)是一种常见的,但往往未被认识到的术后症状。我们在一项基于人群的纵向研究中评估术后认知变化。方法:研究队列包括一个年龄分层的基于人口的随机样本,来自美国一个小镇地区的65岁以上的个体。我们将那些在年度评估中自我报告在前一年接受过全身麻醉手术的参与者确定为病例。我们将那些至少连续6年未接受手术的患者作为对照组。年度认知测试综合得分的结果变量随时间(4年)而变化,包括注意/处理速度、执行功能、记忆、语言和视觉空间功能等领域,这些结果变量使用广义估计方程建模。结果:共有436名参与者具有所需的认知数据;179例(病例)接受了手术,257例(对照组)未接受手术。在调整了年龄、受教育年限、性别、种族、心力衰竭、心律不齐和中风等因素后,接受手术的参与者在执行功能、记忆力和注意力方面的下降幅度更大。讨论:接受手术的参与者在长期的认知功能上有明显的下降。
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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 Q3 CLINICAL NEUROLOGY Pub Date : 2025-01-01 Epub Date: 2025-01-10 DOI: 10.1097/WAD.0000000000000654
Anja Schiel, Niels Juul Brogaard, Julie Hahn-Pedersen, Max Schlueter, Linus Jönsson
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引用次数: 0
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 Q3 CLINICAL NEUROLOGY Pub Date : 2025-01-01 Epub 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

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.

目的:许多患有路易体痴呆(DLB)的人死于与疾病相关的并发症,但预测生命的终结可能具有挑战性。我们发现了一种与接近生命终点相关的表型。方法:我们提出了4例DLB患者在死亡前经历难治性精神病的典型病例。我们回顾了代码本,并引用了3项关于DLB临终经历的研究,以确定与该表型一致的经历。结果:除了这4例病例外,在先前的研究中,家庭照顾者描述了一些DLB患者在死亡前精神病的显著恶化。病情恶化通常发生在死亡前几个月,有时伴有迅速恶化。精神病恶化是主要症状,最初不伴有认知或身体衰退。在许多情况下,难治性精神病导致住院精神科住院治疗或住院护理,但这些情况具有挑战性,因为个人的行为。结论:DLB患者的难治性精神病,特别是与其他症状不成比例,可能是接近生命终点的信号。需要更多的研究来理解这一现象,并开发有效和安全的治疗DLB精神病的方法。
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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 Q3 CLINICAL NEUROLOGY Pub Date : 2025-01-01 Epub 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

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.

目的:睡眠障碍被认为是老年人认知能力下降的危险因素。我们本研究的目的是研究基线睡眠参数是否可以预测随访中从正常认知到轻度认知障碍或痴呆的转变。希腊老龄化与饮食纵向调查是一项以人口为基础的纵向研究,旨在估计希腊老年人口中认知能力下降和痴呆的患病率和发病率。方法:从希腊老龄化与饮食纵向调查研究中抽取955名认知正常的老年人(年龄≥65岁)。在基线和平均3.1年后(SD = 0.85)进行了全面的神经学和神经心理学评估,结果在随访时,160人被诊断为轻度认知障碍,34人被诊断为痴呆,而761人认知正常。结果:采用Cox回归分析,经人口统计学和临床因素调整后,无睡眠参数会增加转换状态的风险。然而,午睡使这种风险降低了19.3% (P < 0.001)。结论:正如之前的几项研究所提出的,午睡是防止认知能力下降的保护因素。因此,临床医生应鼓励老年患者养成这种健康的习惯。
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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 Q3 CLINICAL NEUROLOGY 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

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.

引言痴呆症会对患者家庭成员/伴侣的生活质量(QoL)产生不利影响。衡量这种经常被忽视的负担对于规划和提供适当的支持服务至关重要。本研究采用 "家庭报告结果测量法"(FROM-16)来衡量这种影响:方法:英国通过患者研究平台开展了一项大型横断面在线研究,招募痴呆症患者的家庭成员/伴侣填写 FROM-16:共有 711 名痴呆症患者(平均年龄为 58.7 岁,SD=12.5;女性=81.3%)的家庭成员/伴侣(平均年龄为 81.6 岁,SD=9.6;女性=66.9)完成了 FROM-16。FROM-16 的平均总分为 17.5(SD=6.8),这意味着对家庭成员的 QoL 有 "非常大的影响",女性受到的负面影响更大:痴呆症对患者家庭成员/伴侣的 QoL 影响深远。常规使用 FROM-16 可以提供护理支持,减少家庭成员的倦怠感。这些常规数据可用于痴呆症负担的经济分析,以及预测入院治疗的情况。
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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 Q3 CLINICAL NEUROLOGY 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

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.

背景:阿尔茨海默病(AD)中的精神病是患者及其家人的主要负担。确定阿尔茨海默病患者妄想和幻觉的特征是了解神经认知障碍中精神症状和认知症状之间相互联系的关键。本研究旨在比较患有和未患有精神病的 AD 患者的认知特征:我们进行了一项快速综述,以探讨精神病症状与 AD 患者认知表现之间的关系。我们使用了 2015 年 1 月至 2023 年 1 月期间的 MEDLINE、Embase 和 PsychINFO 文献数据库。本次快速综述由 Cochrane 快速综述方法小组指导:我们从初步检索中确定了 2909 条记录。在审阅了标题、摘要和全文后,我们选择了 8 项横断面研究和 5 项队列研究进行定性分析。其中,6 项研究被纳入最终的定量分析。大多数研究表明,一般认知能力下降与出现精神病性症状的风险之间存在相关性。三项研究发现,幻觉与视觉认知领域(视觉空间、视觉感知和视觉建构能力)的缺陷之间存在关联。两项研究发现精神病症状与执行功能障碍之间存在关系。两项研究还发现精神病症状与语言之间存在相关性。我们的研究结果与之前的文献数据一致,尤其是关于精神病对执行功能和视觉认知能力的影响:结论:AD患者的认知缺陷与精神病性症状之间似乎存在关联,但因果关系的方向尚不明确,采用纵向设计的进一步研究将有助于深入了解AD患者精神病的病理生理过程。
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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 1.4 4区 医学 Q3 CLINICAL NEUROLOGY 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

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.

导言:痴呆症患者可能有很多家人和朋友,他们的死亡可能会影响到这些人。本项目的长期目标是了解痴呆症患者的死亡对近亲属和朋友的影响,通过估算这些近亲属和朋友的身份奠定基础,并特别关注种族和民族:回归模型估算了《健康与退休研究》(Health and Retirement Study,2004-2018 年)中 1386 名痴呆症患者的痴呆症、种族/民族、近亲属和朋友网络规模之间的关联,同时控制了年龄、性别、教育程度、婚姻状况和家庭财富:痴呆症患者去世时平均有 9.4 个亲密的家人和朋友。但非拉丁裔黑人(10.8 人)、拉丁裔(9.9 人)和非拉丁裔白人(9.2 人)痴呆症患者死亡时的亲密亲友模式有所不同。值得注意的是,非拉丁裔白人痴呆症患者的近亲(3.7)最少,其次是非拉丁裔黑人(5.1)和拉丁裔(7.7)痴呆症患者:讨论:了解哪些人可能会受到痴呆症死亡的影响是探索痴呆症相关死亡如何影响近亲属和朋友的第一步。今后的工作可以对痴呆症患者的遗属和朋友进行抽样调查,以探索他们的经历并开发适合其文化的支持。
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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 Q3 CLINICAL NEUROLOGY 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

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.

背景:LRRK2基因突变是帕金森病最常见的遗传病因,但据信在路易体病(LBD)中并未发挥重要作用:由于 G2019S LRRK2 基因突变在北非帕金森病患者中出现的频率极高,我们推测北非路易体病的高发病率可能是由于该基因突变所致,因为路易体病和帕金森病在临床、病理和遗传学方面有许多共同特征:我们对枸杞多糖症或前驱枸杞多糖症患者进行了 LRRK2 G2019S 突变筛查:结果:共对 162 名患者进行了突变检测,在 47 名祖先为北非人的患者中,有 5 人存在这种突变。这一发病率(10.6%)远高于健康的北非人(1.45%),但低于北非帕金森病患者(36% 至 39%)。携带者往往更容易出现正性低血压和吞咽困难:我们发现了一种与路易体病相关的 LRRK2 基因突变,即 G2019S 基因突变,这种突变可能仅限于有北非祖先的患者。我们的研究表明,在分析神经退行性疾病的遗传原因时,有必要引入种族多样性作为分层因素。目前正在开发改变 LRRK2 激酶活性的药物,这为筛查 LBD 北非患者的 G2019S LRRK2 突变提供了依据。
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Alzheimer Disease & Associated Disorders
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