Mercer's Institute for Successful Ageing, 58024St James's Hospital, Dublin, Ireland.
J Geriatr Psychiatry Neurol. 2021 May;34(3):196-208. doi: 10.1177/0891988720924708. Epub 2020 May 21.
The relatively recent identification of a subgroup of patients with apparent behavioral variant frontotemporal dementia (bvFTD) that fails to progress with time has led to a reevaluation of our understanding of bvFTD, and a growing body of research that attempts to characterize the mimic or "phenocopy" syndrome. In this article, we review the literature relating to the phenocopy syndrome, focusing in particular on distinguishing characteristics and potential etiologies.
Published articles were identified via a systematic search of PubMed and Embase. Observational and interventional studies, case reports, and case series were sought for inclusion.
While bvFTD and the phenocopy syndrome are clinically indistinguishable at initial presentation, the presence or absence of characteristic changes on neuroimaging predicts 2 very different illness trajectories. The etiology for the phenocopy presentation remains uncertain. It is likely that the syndrome represents a heterogenous assortment of clinical frontal syndromes encompassing atypical neurodegenerative, psychiatric, psychological, and as yet unknown neuropsychiatric causes.
Although the prognosis of the phenocopy syndrome is generally held to be more favorable than that of bvFTD, patients and families are subject to major disruption in their relationships and social and occupational functioning. Early recognition is crucial to facilitate timely interventions aimed at maintaining relationships, roles, and quality of life of those affected.
最近发现，有一部分表现出明显行为变异额颞叶痴呆（bvFTD）症状的患者不会随着时间的推移而进展，这促使我们重新评估对 bvFTD 的理解，并开展了越来越多的研究来描述这种类似或“表型模拟”综合征。本文回顾了与表型模拟综合征相关的文献，重点关注鉴别特征和潜在病因。
通过系统检索 PubMed 和 Embase 确定已发表的文章。纳入了观察性和干预性研究、病例报告和病例系列。
虽然 bvFTD 和表型模拟综合征在初始表现上难以区分，但神经影像学上是否存在特征性变化预测了两种截然不同的疾病轨迹。表型模拟表现的病因仍不确定。该综合征可能代表了一系列异质性的临床额颞叶综合征，包括不典型的神经退行性、精神、心理和未知的神经精神病因。
尽管表型模拟综合征的预后通常比 bvFTD 更有利，但患者及其家属的人际关系、社会和职业功能会受到严重影响。早期识别对于及时干预以维持受影响者的人际关系、角色和生活质量至关重要。
