Pathologic heterogeneity in clinically diagnosed corticobasal degeneration
Pathologic heterogeneity in clinically diagnosed corticobasal degeneration
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DOI：
10.1212/wnl.53.4.795
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发表时间：
1999-09-11
期刊：
影响因子：
9.9
通讯作者：
Petersen, RC
中科院分区：
文献类型：
--
作者：
Boeve, BF;Maraganore, DM;Petersen, RC
背景：早期的报道表明皮质基底节变性（CBD）是一种独特的临床病理实体。由于患者的临床和实验室检查结果相当一致，许多人认为病理诊断可以在生活中有信心地推测。目的：分析大量临床诊断为胆总管（CBD）病例的病理表现。研究方法：利用1990年1月至1997年12月期间马约诊所的医学研究联系系统，我们确定了在生活中诊断为CBD的病例，这些病例随后进行了尸检。所有患者均出现进行性不对称强直和失用症（1例强直但无失用症），并伴有其他发现，提示额外的皮质和基底神经节功能障碍。所有病例均接受标准化的神经病理检查，确定每个病例的病理变化分布和严重程度，并根据目前公认的标准进行病理诊断。结果：共确诊13例。病理诊断为CBD 7例，AD 2例，进行性核上性麻痹、皮克病、非特异性退行性病变和克雅氏病各1例。2例有明显的锥体外系体征，但基底节和黑质变性可忽略不计。然而，所有患者均出现局灶性或不对称的皮质萎缩，同时存在神经元丢失和胶质增生，伴或不伴海绵状增生状态，其中顶叶和额叶皮质区域最严重。结论：被认为是CBD特征的临床特征的星座与异质性病理相关。此外，这种综合征可以发生在基底神经节和黑质变性的情况下。然而，这种综合征患者的一个不变的病理异常是不对称的顶额叶皮质变性。目前，CBD的准确诊断需要组织检查。
Background: Early reports suggested that corticobasal degeneration (CBD) is a distinct clinicopathologic entity. Because patients have had a fairly consistent constellation of clinical and laboratory findings, many have proposed that the pathologic diagnosis can be surmised with confidence during life. Objective: To analyze the pathologic findings in a large series of cases with clinically diagnosed CBD. Methods: Using the medical research linkage system of the Mayo Clinic for the period January 1990 to December 1997, we identified cases diagnosed during life with CBD who subsequently underwent autopsy. All patients had progressive asymmetric rigidity and apraxia (except one with rigidity but no apraxia) with other findings, suggesting additional cortical and basal ganglionic dysfunction. All cases underwent standardized neuropathologic examination with the distribution and severity of the pathologic changes determined for each case and the pathologic diagnoses based on currently accepted criteria. Results: Thirteen cases were identified. The pathologic diagnoses were CBD in seven, AD in two, and one each for progressive supranuclear palsy, Pick's disease, nonspecific degenerative changes, and Creutzfeldt-Jakob disease. Two cases had negligible basal ganglia and nigral degeneration despite previously having obvious extrapyramidal signs. However, all patients had focal or asymmetric cortical atrophy with coexisting neuronal loss and gliosis with or without status spongiosis, which was maximal in the parietal and frontal cortical regions. Conclusions: The constellation of clinical features considered characteristic of CBD is associated with heterogeneous pathologies. Furthermore, this syndrome can occur in the absence of basal ganglia and nigral degeneration. The one invariable pathologic abnormality in patients with this syndrome, however, is asymmetric parietofrontal cortical degeneration. At present, accurate diagnosis of CBD requires tissue examination.