Josephs K A, Boeve B F, Duffy J R, Smith G E, Knopman D S, Parisi J E, Petersen R C, Dickson D W
Department of Neurology, Division of Behavioural Neurology, Mayo Clinic, Mayo Foundation, Rochester, MN 55905, USA.
Neurocase. 2005 Aug;11(4):283-96. doi: 10.1080/13554790590963004.
Progressive supranuclear palsy (PSP) is a clinicopathological entity typically presenting as an akinetic rigid syndrome with early falls, axial rigidity, vertical supranuclear gaze palsy and levodopa resistance. Pathological features consist of tau deposition in neuronal and glial cells located mainly in subcortical and brainstem structures. Rare cases with the pathological diagnosis of atypical PSP have been described in which neocortical tau deposition is more widespread than what is usually seen in typical PSP. Progressive nonfluent aphasia (PNFA) is a syndrome characterized by spontaneous nonfluent speech and early preserved comprehension of language. Apraxia of speech (AOS) is a motor speech disorder that may be a feature of PNFA. We report the clinical and pathological findings of four cases that presented with features most consistent with PNFA predominated by AOS. Pathological features in these four cases included the typical features of PSP subcortically and in brainstem structures, but combined with tau-positive neuronal and glial pathology in the neocortex. Comprehensive semiquantitative analyses of tau burden including neurofibrillary tangles and pretangles, coiled bodies, tufted astrocytes and threads were undertaken in the four cases of atypical PSP and compared to 10 cases of typical PSP. Semiquantitative analysis demonstrated that in atypical PSP, the pathology shifts from subcortical grey and brainstem regions, commonly affected in typical PSP, towards neocortical regions. This shift in pathology accounts for the presentation of PNFA and AOS observed in our patients, as well as the lack of classic features of PSP. These cases demonstrate that atypical PSP can present as AOS and PNFA without the classic features of PSP.
进行性核上性麻痹（PSP）是一种临床病理实体，通常表现为运动不能性强直综合征，伴有早期跌倒、轴性强直、垂直核上性凝视麻痹和左旋多巴抵抗。病理特征包括主要位于皮质下和脑干结构的神经元和胶质细胞中的tau蛋白沉积。已经描述了罕见的非典型PSP病理诊断病例，其中新皮质tau蛋白沉积比典型PSP中通常所见更为广泛。进行性非流利性失语（PNFA）是一种以自发非流利性言语和早期语言理解能力保留为特征的综合征。言语失用症（AOS）是一种运动性言语障碍，可能是PNFA的一个特征。我们报告了4例临床表现和病理结果，这些病例表现出与以AOS为主的PNFA最一致的特征。这4例病例的病理特征包括PSP在皮质下和脑干结构中的典型特征，但同时伴有新皮质中tau阳性的神经元和胶质病理改变。对包括神经原纤维缠结和前缠结、卷曲小体、簇状星形胶质细胞和细丝在内的tau蛋白负荷进行了综合半定量分析，并将4例非典型PSP病例与10例典型PSP病例进行了比较。半定量分析表明，在非典型PSP中，病理改变从典型PSP中常见的皮质下灰质和脑干区域向新皮质区域转移。这种病理改变的转移解释了我们患者中观察到的PNFA和AOS表现，以及PSP经典特征的缺乏。这些病例表明，非典型PSP可以表现为AOS和PNFA，而没有PSP的经典特征。
