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系统评价:拉丁美洲国家额颞叶痴呆的遗传、神经影像学和体液生物标志物

Systematic Review: Genetic, Neuroimaging, and Fluids Biomarkers for Frontotemporal Dementia Across Latin America Countries.

作者信息

Duran-Aniotz Claudia, Orellana Paulina, Leon Rodriguez Tomas, Henriquez Fernando, Cabello Victoria, Aguirre-Pinto María F, Escobedo Tamara, Takada Leonel T, Pina-Escudero Stefanie D, Lopez Oscar, Yokoyama Jennifer S, Ibanez Agustin, Parra Mario A, Slachevsky Andrea

机构信息

Latin American Institute for Brain Health (BrainLat), Universidad Adolfo Ibanez, Santiago, Chile.

Center for Social and Cognitive Neuroscience (CSCN), School of Psychology, Universidad Adolfo Ibanez, Santiago, Chile.

出版信息

Front Neurol. 2021 Jun 24;12:663407. doi: 10.3389/fneur.2021.663407. eCollection 2021.

Abstract

Frontotemporal dementia (FTD) includes a group of clinically, genetically, and pathologically heterogeneous neurodegenerative disorders, affecting the fronto-insular-temporal regions of the brain. Clinically, FTD is characterized by progressive deficits in behavior, executive function, and language and its diagnosis relies mainly on the clinical expertise of the physician/consensus group and the use of neuropsychological tests and/or structural/functional neuroimaging, depending on local availability. The modest correlation between clinical findings and FTD neuropathology makes the diagnosis difficult using clinical criteria and often leads to underdiagnosis or misdiagnosis, primarily due to lack of recognition or awareness of FTD as a disease and symptom overlap with psychiatric disorders. Despite advances in understanding the underlying neuropathology of FTD, accurate and sensitive diagnosis for this disease is still lacking. One of the major challenges is to improve diagnosis in FTD patients as early as possible. In this context, biomarkers have emerged as useful methods to provide and/or complement clinical diagnosis for this complex syndrome, although more evidence is needed to incorporate most of them into clinical practice. However, most biomarker studies have been performed using North American or European populations, with little representation of the Latin American and the Caribbean (LAC) region. In the LAC region, there are additional challenges, particularly the lack of awareness and knowledge about FTD, even in specialists. Also, LAC genetic heritage and cultures are complex, and both likely influence clinical presentations and may modify baseline biomarker levels. Even more, due to diagnostic delay, the clinical presentation might be further complicated by both neurological and psychiatric comorbidity, such as vascular brain damage, substance abuse, mood disorders, among others. This systematic review provides a brief update and an overview of the current knowledge on genetic, neuroimaging, and fluid biomarkers for FTD in LAC countries. Our review highlights the need for extensive research on biomarkers in FTD in LAC to contribute to a more comprehensive understanding of the disease and its associated biomarkers. Dementia research is certainly reduced in the LAC region, highlighting an urgent need for harmonized, innovative, and cross-regional studies with a global perspective across multiple areas of dementia knowledge.

摘要

额颞叶痴呆(FTD)包括一组临床、遗传和病理上异质性的神经退行性疾病,影响大脑的额岛颞叶区域。临床上,FTD的特征是行为、执行功能和语言方面的进行性缺陷,其诊断主要依赖于医生/共识小组的临床专业知识以及神经心理学测试和/或结构/功能神经影像学检查的使用,这取决于当地的可获得性。临床发现与FTD神经病理学之间的适度相关性使得使用临床标准进行诊断很困难,并且常常导致诊断不足或误诊,主要原因是对FTD作为一种疾病缺乏认识或了解,以及与精神疾病的症状重叠。尽管在理解FTD的潜在神经病理学方面取得了进展,但对于这种疾病仍然缺乏准确和敏感的诊断方法。其中一个主要挑战是尽早改善对FTD患者的诊断。在这种情况下,生物标志物已成为为这种复杂综合征提供和/或补充临床诊断的有用方法,尽管需要更多证据才能将其中大多数纳入临床实践。然而,大多数生物标志物研究是使用北美或欧洲人群进行的,拉丁美洲和加勒比地区(LAC)的代表性很少。在LAC地区,存在其他挑战,特别是即使在专家中,对FTD也缺乏认识和了解。此外,LAC的遗传遗产和文化很复杂,两者都可能影响临床表现并可能改变基线生物标志物水平。甚至更重要的是,由于诊断延迟,临床表现可能会因神经和精神合并症而进一步复杂化,如血管性脑损伤、药物滥用、情绪障碍等。本系统综述简要更新并概述了LAC国家中FTD的遗传、神经影像学和体液生物标志物的当前知识。我们的综述强调了在LAC地区对FTD生物标志物进行广泛研究的必要性,以有助于更全面地了解该疾病及其相关生物标志物。痴呆症研究在LAC地区肯定有所减少,这突出表明迫切需要从全球视角在痴呆症知识的多个领域进行协调、创新和跨区域研究。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0d2a/8263937/0c48471e4960/fneur-12-663407-g0001.jpg

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