Neurorehabilitation Unit, Department of Clinical Neurosciences, San Raffaele Scientific Institute and Università Vita-Salute San Raffaele, Via Olgettina 60, 20132, Milan, Italy.
Neurol Sci. 2013 Aug;34(8):1267-74. doi: 10.1007/s10072-013-1317-9. Epub 2013 Feb 3.
The behavioral variant of frontotemporal dementia (bvFTD) is one of the most frequent neurodegenerative disorders with a presenile onset. It is characterized by a long phase of subclinical behavioral changes and social conduct disorders, associated with a progressive modification of personality. Recently, an international consortium of experts developed revised guidelines for its clinical diagnosis, which highlight the supportive role of biomarkers in the diagnostic process. According to new criteria, bvFTD can be classified in "possible" (requiring three of six specific clinical features), "probable" (in the presence of functional disability and typical neuroimaging features), and "with definite frontotemporal lobar degeneration" (requiring the presence of a known causal mutation or a histopathological confirmation). Familial aggregation is frequently reported in bvFTD and frontotemporal lobar degeneration in general, with an autosomal dominant transmission in about 10 % cases. The aim of this paper is to review and discuss recent advances in the knowledge of clinical, neuropsychological, and imaging features of bvFTD. We also briefly summarize the available genetic information about the frontotemporal lobar degeneration spectrum.
额颞叶痴呆的行为变异型（bvFTD）是最常见的神经退行性疾病之一，发病年龄较轻。其特征是存在较长的亚临床行为改变和社会行为障碍阶段，同时伴有人格的逐渐改变。最近，一个国际专家联合会制定了该病临床诊断的修订指南，强调了生物标志物在诊断过程中的支持作用。根据新标准，bvFTD 可分为“可能”（需要 6 项特定临床特征中的 3 项）、“可能”（存在功能障碍和典型神经影像学特征）和“具有明确的额颞叶变性”（需要存在已知的因果突变或组织病理学确认）。bvFTD 及额颞叶变性一般存在家族聚集性，约 10%的病例为常染色体显性遗传。本文旨在综述和讨论 bvFTD 的临床、神经心理学和影像学特征的最新研究进展。我们还简要总结了额颞叶变性谱的现有遗传信息。
