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When DLB, PD, and PSP masquerade as MSA: an autopsy study of 134 patients
Shunsuke Koga1, Naoya Aoki1, Ryan J Uitti1
1From the Departments of Neuroscience (S.K., N.A., D.W.D.) and Neurology (R.J.U., J.A.v.G., W.P.C., Z.K.W.), Mayo Clinic, Jacksonville, FL; the Department of Neurology (Behavioural Neurology) (K.A.J.), Mayo Clinic, Rochester, MN; and The Parkinson's Institute and Clinical Center (J.W.L.), Sunnyvale, CA.
Objective:
To determine ways to improve diagnostic accuracy of multiple system atrophy (MSA), we assessed the diagnostic process in patients who came to autopsy with antemortem diagnosis of MSA by comparing clinical and pathologic features between those who proved to have MSA and those who did not. We focus on likely explanations for misdiagnosis.
Methods:
This is a retrospective review of 134 consecutive patients with an antemortem clinical diagnosis of MSA who came to autopsy with neuropathologic evaluation of the brain. Of the 134 patients, 125 had adequate medical records for review. Clinical and pathologic features were compared between patients with autopsy-confirmed MSA and those with other pathologic diagnoses, including dementia with Lewy bodies (DLB), Parkinson disease (PD), and progressive supranuclear palsy (PSP).
Results:
Of the 134 patients with clinically diagnosed MSA, 83 (62%) had the correct diagnosis at autopsy. Pathologically confirmed DLB was the most common misdiagnosis, followed by PSP and PD. Despite meeting pathologic criteria for intermediate to high likelihood of DLB, several patients with DLB did not have dementia and none had significant Alzheimer-type pathology. Autonomic failure was the leading cause of misdiagnosis in DLB and PD, and cerebellar ataxia was the leading cause of misdiagnosis in PSP.
Conclusions:
The diagnostic accuracy for MSA was suboptimal in this autopsy study. Pathologically confirmed DLB, PD, and PSP were the most common diseases to masquerade as MSA. This has significant implications not only for patient care, but also for research studies in MSA cases that do not have pathologic confirmation.
Insights
Diagnosing multiple system atrophy (MSA) accurately is challenging, with many cases misdiagnosed as dementia with Lewy bodies, Parkinson disease, or progressive supranuclear palsy. Improving diagnostic accuracy is crucial for patient care and MSA research.
Area of Science:
- Neurology
- Pathology
- Clinical Diagnostics
Background:
- Multiple system atrophy (MSA) is a rare neurodegenerative disease.
- Accurate antemortem diagnosis of MSA remains a clinical challenge.
- Misdiagnosis can impact patient management and research validity.
Purpose of the Study:
- To evaluate the diagnostic accuracy of multiple system atrophy (MSA).
- To identify common misdiagnoses and their underlying reasons.
- To inform strategies for improving MSA diagnostic accuracy.
Main Methods:
- Retrospective review of 134 patients with an antemortem clinical diagnosis of MSA.
- Comparison of clinical and pathological features in autopsy-confirmed MSA versus non-MSA cases.
- Analysis of misdiagnoses including dementia with Lewy bodies (DLB), Parkinson disease (PD), and progressive supranuclear palsy (PSP).
Main Results:
- Only 62% of patients with a clinical MSA diagnosis were correctly identified at autopsy.
- Dementia with Lewy bodies (DLB) was the most frequent misdiagnosis, followed by PSP and PD.
- Autonomic failure and cerebellar ataxia were key features leading to misdiagnosis in specific conditions.
Conclusions:
- Diagnostic accuracy for MSA in this autopsy series was suboptimal.
- DLB, PD, and PSP frequently mimic MSA clinically.
- Improved diagnostic criteria and awareness are needed for accurate MSA diagnosis and research.
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