Progressive supranuclear palsy and corticobasal degeneration: novel clinical concepts and advances in biomarkers

ABSTRACT Background: Progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD) are sporadic adult-onset primary tauopathies clinically classified among the atypical parkinsonian syndromes. They are intrinsically related with regard to their clinical features, pathology, biochemistry, and genetic risk factors. Objectives: This review highlights the current knowledge on PSP and CBD, focusing on evolving clinical concepts, new diagnostic criteria, and advances in biomarkers. Methods: We performed a non-systematic literature review through the PubMed database. The search was restricted to articles written in English, published from 1964 to date. Results: Clinicopathologic and in vivo biomarkers studies have broadened PSP and CBD clinical phenotypes. They are now recognized as a range of motor and behavioral syndromes associated with underlying 4R-tauopathy neuropathology. The Movement Disorders Society PSP diagnostic criteria included clinical variants apart from the classical description, increasing diagnostic sensitivity. Meanwhile, imaging biomarkers have explored the complexity of symptoms and pathological processes related to corticobasal syndrome and CBD. Conclusions: In recent years, several prospective or clinicopathologic studies have assessed clinical, radiological, and fluid biomarkers that have helped us gain a better understanding of the complexity of the 4R-tauopathies, mainly PSP and CBD.

摘要
背景：进行性核上性麻痹（Progressive supranuclear palsy, PSP）与皮质基底节变性（corticobasal degeneration, CBD）均为散发性成人起病的原发性tau蛋白病，临床归类为非典型帕金森综合征范畴。二者在临床特征、病理表现、生化特性及遗传风险因素方面均存在内在关联。
研究目的：本综述旨在梳理当前针对PSP与CBD的研究认知，重点关注不断发展的临床概念、新版诊断标准以及生物标志物领域的研究进展。
研究方法：我们通过PubMed数据库开展了非系统性文献回顾，检索范围限定为1964年至今发表的英文文献。
研究结果：临床病理与在体生物标志物研究拓展了PSP与CBD的临床表型谱，目前二者已被认为是一组与潜在4R-tau蛋白病（4R-tauopathy）神经病理相关的运动及行为综合征。运动障碍学会（Movement Disorders Society, MDS）的PSP诊断标准纳入了经典分型之外的临床变异型，提升了诊断敏感性。与此同时，影像生物标志物研究进一步解析了与皮质基底节综合征及CBD相关的症状复杂性与病理进程。
研究结论：近年来，多项前瞻性研究及临床病理研究对临床、影像及体液生物标志物进行了评估，帮助我们更深入地理解以PSP和CBD为代表的4R-tau蛋白病的复杂性。