Does corticobasal degeneration exist? A clinicopathological re-evaluation
Does corticobasal degeneration exist? A clinicopathological re-evaluation
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DOI：
10.1093/brain/awq123
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发表时间：
2010-07-01
期刊：
影响因子：
14.5
通讯作者：
Lees, Andrew J.
中科院分区：
文献类型：
--
作者：
Ling, Helen;O'Sullivan, Sean S.;Lees, Andrew J.
皮质基底节变性的病理结果与几种不同的临床综合征相关，皮质基底节综合征与许多不同的病理学有关。我们回顾了20年来皇后广场脑库神经疾病的所有档案病例，无论是临床诊断为皮质基底综合征还是病理诊断为皮质基底变性，试图确定主要的诊断陷阱。在19例病理证实的皮质基底节变性病例中，只有5例在生活中被正确诊断（敏感性= 26.3%），其中4例接受了替代性早期诊断。所有5例患者均为单侧表现、笨拙无用的肢体、肢体失用症和肌阵挛，4例患者有皮质感觉障碍和局灶性肢体肌张力障碍，3例患者有异肢。8例皮质基底节变性患者临床诊断为进行性核上性麻痹，均为垂直性核上性麻痹，7例在前2年内有福尔斯跌倒史。另一方面，在21例临床诊断为皮质基底综合征的病例中，只有5例有皮质基底变性病理，阳性预测值为23.8%;其他6例有进行性核上性麻痹病理，5例有阿尔茨海默病，其余5例有其他非tau蛋白病理。皮质基底节变性非常常见，临床表现与经典进行性核上性麻痹或理查森综合征非常相似，我们建议将这一亚组称为皮质基底节变性-理查森综合征。皮质基底节变性-理查森综合征的病例具有延迟发作的垂直核上性凝视麻痹（在首次症状发作后> 3年）和罕见的主要向下凝视异常的发生，这两者都可以是其潜在的皮质基底节变性病理学的有用指针。42%的皮质基底节变性病例临床表现为进行性核上性麻痹表型，29%的皮质基底节综合征病例有潜在的进行性核上性麻痹病理。相比之下，在皇后广场脑库档案收集，皮质基底综合征是一种罕见的临床表现进行性核上性麻痹发生在179例病理诊断的进行性核上性麻痹病例中只有6例（3%）。尽管有这些诊断上的困难，我们的结论是皮质基底节变性是一个独立的临床病理实体，但比最初提出的临床谱更广。
The pathological findings of corticobasal degeneration are associated with several distinct clinical syndromes, and the corticobasal syndrome has been linked with a number of diverse pathologies. We have reviewed all the archival cases in the Queen Square Brain Bank for Neurological Disorders over a 20-year period with either a clinical diagnosis of corticobasal syndrome or pathological diagnosis of corticobasal degeneration in an attempt to identify the main diagnostic pitfalls. Of 19 pathologically confirmed corticobasal degeneration cases, only five had been diagnosed correctly in life (sensitivity = 26.3%) and four of these had received an alternative earlier diagnosis. All five of these had a unilateral presentation, clumsy useless limb, limb apraxia and myoclonus, four had cortical sensory impairment and focal limb dystonia and three had an alien limb. Eight cases of corticobasal degeneration had been clinically diagnosed as progressive supranuclear palsy, all of whom had vertical supranuclear palsy and seven had falls within the first 2 years. On the other hand, of 21 cases with a clinical diagnosis of corticobasal syndrome, only five had corticobasal degeneration pathology, giving a positive predictive value of 23.8%; six others had progressive supranuclear palsy pathology, five had Alzheimer's disease and the remaining five had other non-tau pathologies. Corticobasal degeneration can present very commonly with a clinical picture closely resembling classical progressive supranuclear palsy or Richardson's syndrome, and we propose the term corticobasal degeneration-Richardson's syndrome for this subgroup. Cases of corticobasal degeneration-Richardson's syndrome have delayed onset of vertical supranuclear gaze palsy (> 3 years after onset of first symptom) and the infrequent occurrence of predominant downgaze abnormalities, both of which can be helpful pointers to their underlying corticobasal degeneration pathology. Fourty-two per cent of corticobasal degeneration cases presented clinically with a progressive supranuclear palsy phenotype and 29% of cases with corticobasal syndrome had underlying progressive supranuclear palsy pathology. In contrast, in the Queen Square Brain Bank archival collection, corticobasal syndrome is a rare clinical presentation of progressive supranuclear palsy occurring in only 6 of the 179 pathologically diagnosed progressive supranuclear palsy cases (3%). Despite these diagnostic difficulties we conclude that corticobasal degeneration is a discrete clinicopathological entity but with a broader clinical spectrum than was originally proposed.