Clinical features of autopsy-confirmed multiple system atrophy in the Mayo Clinic Florida brain bank
Clinical features of autopsy-confirmed multiple system atrophy in the Mayo Clinic Florida brain bank
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DOI：
10.1016/j.parkreldis.2021.07.007
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发表时间：
2021-07-22
影响因子：
4.1
通讯作者：
Dickson, Dennis W.
中科院分区：
文献类型：
--
作者：
Koga, Shunsuke;Cheshire, William P.;Dickson, Dennis W.
背景：多系统萎缩（MSA）表现为自主神经功能障碍、帕金森综合征和小脑共济失调的各种组合。虽然临床诊断标准已被广泛使用，但敏感性和特异性均不理想。本研究旨在为修订MSA的现行诊断标准提供依据。研究方法：我们回顾了马约诊所脑库中171例尸检证实的MSA患者的临床特征和诊断。病理学特征，包括伴随的病理学（即，阿尔茨海默病相关和路易相关的病理学）。结果如下：该队列包括133例帕金森型MSA，36例小脑型MSA和2例未显示明显运动症状的未分类MSA患者。23例患者（13%）未被临床诊断为MSA，而是患有进行性核上性麻痹、帕金森病（PD）、PD伴痴呆（PDD）或路易体痴呆（DLB）。3例PDD和DLB患者还伴有路易体病理学。6例患者有迟发性MSA，发病年龄大于75岁。勃起功能障碍常见于所有年龄范围的男性患者（60/63; 95%）。REM睡眠行为障碍（RBD）出现在82例（48%），13例患者的初始症状。60例患者（35%）存在认知障碍，但仅2例患者为初始症状。结论：我们的研究结果支持晚发型不应排除MSA的结论。这个大型尸检队列的发现为改善MSA的临床标准提供了有价值的见解。
Background: Multiple system atrophy (MSA) presents with various combinations of autonomic dysfunction, parkinsonism, and cerebellar ataxia. Although clinical diagnostic criteria have been widely used, the sensitivity and specificity are suboptimal. This study aims to provide evidence supporting the revision of the current diagnostic criteria for MSA. Methods: Medical records of 171 patients with autopsy-confirmed MSA in the Mayo Clinic brain bank were reviewed with regard to their clinical features and diagnoses. Pathologic features, including concomitant pathologies (i.e., Alzheimer-related and Lewy-related pathologies), were also assessed. Results: The cohort included 133 MSA-parkinsonian type, 36 MSA-cerebellar type, and 2 unclassified MSA patients who did not show significant motor symptoms. Twenty-three patients (13%) were not clinically diagnosed with MSA, but instead with progressive supranuclear palsy, Parkinson's disease (PD), PD with dementia (PDD), or dementia with Lewy bodies (DLB). Three patients with PDD and DLB also had concomitant Lewy body pathology. Six patients had late-onset MSA, with an age of onset greater than 75 years. Erectile dysfunction was frequent in male patients (60/63; 95%) in all age ranges. REM sleep behavior disorder (RBD) was present in 82 patients (48%) and was the initial symptom in 13 patients. Cognitive impairment was present in 60 patients (35%), but was an initial symptom in only two patients. Conclusions: Our findings support the conclusion that late-onset presentation should not exclude MSA. The findings of this large autopsy-based cohort provides valuable insights for improving clinical criteria for MSA.