Examination of the earliest symptoms and biomarkers of FTLD MAPT carriers
FTLD MAPT 携带者最早症状和生物标志物的检查
基本信息
- 批准号:8439912
- 负责人:
- 金额:$ 59.51万
- 依托单位:
- 依托单位国家:美国
- 项目类别:
- 财政年份:2012
- 资助国家:美国
- 起止时间:2012-09-21 至 2017-07-31
- 项目状态:已结题
- 来源:
- 关键词:AccountingAddictive BehaviorAgeAlcohol or Other Drugs useAlcoholsAnteriorBehaviorBehavioralBiologicalBiological MarkersBrainCerebrospinal FluidChromosomesChromosomes, Human, Pair 17ClinicalCognitionCognitiveCollectionControlled EnvironmentDataDepositionDetectionDietDiseaseEarly DiagnosisEvaluationExonsFamilyFrequenciesFrontotemporal DementiaFrontotemporal Lobar DegenerationsGene MutationGenerationsGenesGeneticGenetic screening methodGrantImageIndividualInstitutesLifeLife StyleLinkLongitudinal StudiesMeasuresModalityMultivariate AnalysisOnset of illnessPGRN genePatternPhysical activityPlasmaProteinsRecruitment ActivityResearch PersonnelSensitivity and SpecificitySpecimenStagingSymptomsSyndromeTemporal LobeTherapeuticTimebasebehavior testcingulate gyruscohortexecutive functionfollow-upgray matterimprovedlifestyle factorsmembermutation carrierneuroimagingoffspringrecreational drug usesocial cognitiontau Proteinstau mutationtoolwhite matter
项目摘要
DESCRIPTION (provided by applicant): Discoveries about the genetic bases of frontotemporal lobar dementia (FTLD) have provided researchers with an unprecedented ability to characterize the pre-symptomatic stages of this disease. This capability is critical to ascertaining the earliest clinical features of the disease and identifying biomarkers that can be used for early diagnosis and in treatment studies. The proposed project will examine individuals from a single family with a genetic mutation for FTLD who are approaching the age of disease onset, offering a unique and highly controlled environment in which to identify the earliest clinical features and biomarkers of this devastating disease. Specifically, this study proposes to follow the offspring generation of a large family with a known mutation in the MAPT (tau) gene to determine the earliest clinical features of FTLD and the variables which may modify disease onset and course. At least 90 members of the offspring generation of a single family will be offered participation in a longitudinal study examining cognition, behavior, psychiatric symptoms, and lifestyle features. Moreover, this proposal includes the use of state of the art neuroimaging tools including both structural and functional modalities, gray and white matter quantification, and regional and network analyses to detect the earliest signs of disease. Individuals will undergo genetic testing to determine carrier status, will be comprehensively characterized at baseline, and will be followed annually over the course of the study to examine change in clinical and imaging variables over time as a function of carrier status. Additionally, the proposed study will carefully characterize lifetime physical activity and alcohol and recreational drug use to determine if these lifestyle variables are early manifestations of disease
and / or modify disease onset and course. Finally, biological specimens including cerebrospinal fluid and blood plasma will be longitudinally collected in an effort to characterize changes in brain protein levels that may provide early information regarding the onset and course of disease.
PUBLIC HEALTH RELEVANCE: Improved characterization of FTLD at its earliest stages is a necessary step in facilitating earlier disease detection and developing disease modifying therapeutics that can be applied in advance of irrevocable neuropathological changes.
描述(由申请人提供):关于额颞叶痴呆(FTLD)遗传基础的发现为研究人员提供了前所未有的能力来表征这种疾病的症状前阶段。这种能力对于确定疾病的最早临床特征和鉴定可用于早期诊断和治疗研究的生物标志物至关重要。拟议的项目将检查来自一个家庭的个体,这些个体具有FTLD基因突变,正在接近疾病发作的年龄,提供一个独特且高度受控的环境,以确定这种毁灭性疾病的最早临床特征和生物标志物。具体而言,本研究建议跟踪一个已知MAPT(tau)基因突变的大家族的后代,以确定FTLD的最早临床特征和可能改变疾病发作和病程的变量。一个家庭的后代中至少有90名成员将参与一项纵向研究,检查认知、行为、精神症状和生活方式特征。此外,该提案包括使用最先进的神经成像工具,包括结构和功能模式、灰质和白色物质量化以及区域和网络分析,以检测疾病的最早体征。个体将接受基因检测以确定携带者状态,将在基线时进行全面表征,并将在研究过程中每年进行随访,以检查临床和成像变量随时间的变化作为携带者状态的函数。此外,拟议的研究将仔细描述终身体力活动和酒精和娱乐性药物的使用,以确定这些生活方式变量是否是疾病的早期表现
和/或改变疾病发作和病程。最后,将纵向收集包括脑脊液和血浆在内的生物样本,以描述脑蛋白水平的变化,这可能提供有关疾病发作和病程的早期信息。
公共卫生相关性:在其最早阶段改善FTLD的表征是促进早期疾病检测和开发可在不可挽回的神经病理学变化之前应用的疾病修饰疗法的必要步骤。
项目成果
期刊论文数量(0)
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STEPHANIE Ann COSENTINO其他文献
STEPHANIE Ann COSENTINO的其他文献
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Clinical Pathological Study of Cognitive Impairment in Essential Tremor
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10670919 - 财政年份:2014
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$ 59.51万 - 项目类别:
Clinical Pathological Study of Cognitive Impairment in Essential Tremor
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10248571 - 财政年份:2014
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Clinical Pathological Study of Cognitive Impairment in Essential Tremor
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