Cerebellar ataxia in progressive supranuclear palsy: An autopsy study of PSP-C.
Cerebellar ataxia in progressive supranuclear palsy: An autopsy study of PSP-C.
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DOI：
10.1002/mds.26499
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发表时间：
2016-05
期刊：
影响因子：
--
通讯作者：
Dickson DW
中科院分区：
文献类型：
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作者：
Koga S;Josephs KA;Ogaki K;Labbé C;Uitti RJ;Graff-Radford N;van Gerpen JA;Cheshire WP;Aoki N;Rademakers R;Wszolek ZK;Ross OA;Dickson DW
小脑性共济失调是临床诊断进行性核上性麻痹（PSP）的排除标准，但也有报道称存在以小脑性共济失调为主的变体。本研究的目的是估计PSP的频率与主要小脑性共济失调的尸检系列从美国，并比较临床，病理学和遗传差异PSP和没有主要小脑性共济失调。我们从我们的脑库数据库中选择了100例在马约诊所接受过评估的经病理学证实的PSP患者（称为马约诊所患者系列）（N = 1085）。接下来，我们通过搜索其余985例（1）多系统萎缩（MSA）的死前诊断，或（2）小脑或小脑传入核显著变性的神经病理学证据，丰富了可能患有小脑共济失调的病例。比较两组患者的临床、病理及遗传学特征。马约诊所患者系列中的1例患者（1%）符合PSP的标准，伴有主要小脑共济失调，MRI显示小脑和轻度中脑萎缩。通过有针对性的检索确定了4例患者。五名患者中有四名在临床上被误诊为多发性硬化症。两组之间tau蛋白相关病理和小脑变性的严重程度没有差异。在tau基因型中未检测到差异。虽然我们的数据不能提供确切的信息，如何作出准确的临床诊断，它应该有助于提高认识PSP与主要小脑共济失调的鉴别诊断MSA。
Cerebellar ataxia is an exclusion criterion for clinical diagnosis of progressive supranuclear palsy (PSP), but a variant with predominant cerebellar ataxia has been reported. The aims of this study were to estimate the frequency of PSP with predominant cerebellar ataxia in an autopsy series from the United States, and to compare clinical, pathologic, and genetic differences between PSP with and without predominant cerebellar ataxia. We selected 100 consecutive patients with pathologically-confirmed PSP who had been evaluated at Mayo Clinic (referred to as the Mayo Clinic patient series) from our brain bank database (N = 1085). We next enriched in cases likely to have cerebellar ataxia by searching the remaining 985 cases for (1) an antemortem diagnosis of multiple system atrophy (MSA), or (2) neuropathological evidence of prominent degeneration of the cerebellum or cerebellar afferent nuclei. Subsequently, clinical, pathologic and genetic features were compared between the two groups. One patient in the Mayo Clinic patient series (1%) met criteria for PSP with predominant cerebellar ataxia and had both cerebellar and mild midbrain atrophy on MRI. Four patients were identified with the targeted search. Four of the five patients were clinically misdiagnosed as MSA. The severity of tau-related pathology and cerebellar degeneration were not different between the two groups. No differences were detected in tau genotypes. While our data cannot provide definitive information about how to make an accurate clinical diagnosis, it should serve to raise awareness of PSP with predominant cerebellar ataxia in the differential diagnosis of MSA.