Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2015 Aug 4;85(5):404-12.
doi: 10.1212/WNL.0000000000001807. Epub 2015 Jul 2.

When DLB, PD, and PSP masquerade as MSA: an autopsy study of 134 patients

Shunsuke Koga  1 , Naoya Aoki  1 , Ryan J Uitti  1 , Jay A van Gerpen  1 , William P Cheshire  1 , Keith A Josephs  1 , Zbigniew K Wszolek  1 , J William Langston  1 , Dennis W Dickson  2
Affiliations

When DLB, PD, and PSP masquerade as MSA: an autopsy study of 134 patients

Shunsuke Koga et al. Neurology. .

Abstract

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.

PubMed Disclaimer

Figures

Figure
Figure. Flow chart of study design
DLB = dementia with Lewy bodies; MSA = multiple system atrophy; PD = Parkinson disease; PSP = progressive supranuclear palsy; OPCA = predominantly olivopontocerebellar involvement type of multiple system atrophy; SND = predominantly striatonigral involvement type of multiple system atrophy; SND/OPCA = equally severe striatonigral and olivopontocerebellar involvement type of multiple system atrophy.
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

  • In Vivo Diagnosis of Synucleinopathies: A Comparative Study of Skin Biopsy and RT-QuIC.
    Donadio V, Wang Z, Incensi A, Rizzo G, Fileccia E, Vacchiano V, Capellari S, Magnani M, Scaglione C, Stanzani Maserati M, Avoni P, Liguori R, Zou W. Donadio V, et al. Neurology. 2021 May 18;96(20):e2513-e2524. doi: 10.1212/WNL.0000000000011935. Epub 2021 Apr 9. Neurology. 2021. PMID: 33837116 Free PMC article.
  • Challenges in the diagnosis of Parkinson's disease.
    Tolosa E, Garrido A, Scholz SW, Poewe W. Tolosa E, et al. Lancet Neurol. 2021 May;20(5):385-397. doi: 10.1016/S1474-4422(21)00030-2. Lancet Neurol. 2021. PMID: 33894193 Free PMC article. Review.
  • Multiple system atrophy.
    Goh YY, Saunders E, Pavey S, Rushton E, Quinn N, Houlden H, Chelban V. Goh YY, et al. Pract Neurol. 2023 Jun;23(3):208-221. doi: 10.1136/pn-2020-002797. Epub 2023 Mar 16. Pract Neurol. 2023. PMID: 36927875 Free PMC article. Review.
  • α-Synuclein RT-QuIC assay in cerebrospinal fluid of patients with dementia with Lewy bodies.
    Bongianni M, Ladogana A, Capaldi S, Klotz S, Baiardi S, Cagnin A, Perra D, Fiorini M, Poleggi A, Legname G, Cattaruzza T, Janes F, Tabaton M, Ghetti B, Monaco S, Kovacs GG, Parchi P, Pocchiari M, Zanusso G. Bongianni M, et al. Ann Clin Transl Neurol. 2019 Oct;6(10):2120-2126. doi: 10.1002/acn3.50897. Epub 2019 Oct 10. Ann Clin Transl Neurol. 2019. PMID: 31599499 Free PMC article.
  • Diagnostic challenges in multiple system atrophy.
    Obelieniene D, Bauzaite S, Kulakiene I, Keleras E, Eitmonaite I, Rastenyte D. Obelieniene D, et al. Neuropsychiatr Dis Treat. 2018 Jan 4;14:179-184. doi: 10.2147/NDT.S146080. eCollection 2018. Neuropsychiatr Dis Treat. 2018. PMID: 29379290 Free PMC article.
See all "Cited by" articles

References

    1. Wenning GK, Tison F, Ben Shlomo Y, Daniel SE, Quinn NP. Multiple system atrophy: a review of 203 pathologically proven cases. Mov Disord 1997;12:133–147. - PubMed
    1. Geser F, Wenning GK, Seppi K, et al. Progression of multiple system atrophy (MSA): a prospective natural history study by the European MSA Study Group (EMSA SG). Mov Disord 2006;21:179–186. - PubMed
    1. Fanciulli A, Wenning GK. Multiple-system atrophy. N Engl J Med 2015;372:249–263. - PubMed
    1. Gilman S, Wenning GK, Low PA, et al. Second consensus statement on the diagnosis of multiple system atrophy. Neurology 2008;71:670–676. - PMC - PubMed
    1. Osaki Y, Wenning GK, Daniel SE, et al. Do published criteria improve clinical diagnostic accuracy in multiple system atrophy? Neurology 2002;59:1486–1491. - PubMed

Publication types

  NODES
Association 1
twitter 2