Virameteekul et al., more recently evaluated the validation of MDS-MSA (Movement Disorders Society-Multiple System Atrophy) diagnostic criteria (1)agains neuropathological diagnosis while comparing their diagnostic performance to previous criteria and diagnosis in clinical practice. Though the previous 2008 Gilman's MDS-MSA criteria were already performing very well in terms of specificity, the need to have new MSA criteria was directed towards having higher diagnostic sensitivity. In this present study, Virameteekul et al., (1)retrospectively analyzed patientswith documented features of sporadic progressive adult-onset parkinsonism or cerebellar ataxia in between 2009 and 2019, and grouped them into MSA and non-MSA according to the neuropathological diagnosis. In this large retrospective review, the clinical diagnosis were re-evaluated through the MDS-MSA diagnostic criteria by defining early stage as “the onset of symptoms within 3 years”. The gold standard in the evaluation and comparison of diagnostic parameters such as sensitivity, specificity, positive/negative predictive value, and accuracy, with different criteria, was the neuropathological diagnosis. Clinically probable MDS-MSA showed excellent sensitivity (95.1%), specificity (94.0%), and accuracy (94.3%) at final disease stages. However, the sensitivity of clinical diagnosis at early stages in clinical practice was only 40.8%, with a diagnostic accuracy of 76.4%. This could be explained by atypical presentations of the sample. Notably, the present study did not validate the possible prodromal MSA category. Clinically established MDS-MSA criteria showed perfect specificity even at early stages. MDS –MSA criteria also provide a high diagnostic accuracy for both MSA – C (cerebellar) and MSA-P (parkinsonism). Apart from clinical practice, MDS-MSA criteria are suggested as useful tools for the selection of de novo MSA patients with a high level of certainty for clinical trials. Although this finding is optimistic, the need to have new MSA criteria was directed towards having higher diagnostic sensitivity, which has to be still to be demonstrated.
Key Points:
- Among 318 patients with essential features for MSA, most common presentation was parkinsonism (n = 248, 77.9%), followed by cerebellar syndrome (n = 70,
20.1%) - Pure autonomic failure preceded motor symptoms in 34 of 318 patients (10.7%).
- Clinically probable MDS-MSA final stages: sensitivity (95.1%), specificity (94.0%), and accuracy (94.3%)
- Clinically probable MDS-MSA early stages: sensitivity (62.1%)
References:
- Virameteekul S, Revesz T, Jaunmuktane Z, Warner TT, De Pablo-Fernández E. Pathological Validation of the MDS Criteria for the Diagnosis of Multiple System Atrophy. MovDisord 2023 Mar;38(3):444-452. doi: 10.1002/mds.29304.https://pubmed.ncbi.nlm.nih.gov/36606594/
- Osaki Y, Ben-Shlomo Y, Lees AJ, Wenning GK, Quinn NP. A validation exercise on the new consensus criteria for multiple systematrophy. MovDisord 2009;24(15):2272–2276. https://pubmed.ncbi.nlm.nih.gov/19845011/
- Gilman S, Wenning GK, Low PA, Brooks DJ, Mathias CJ, Trojanowski JQ, etal.Second consensus statement on the diagnosis of multiple system atrophy. Neurology. 2008; 71(9):670-6. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2676993/
- Wenning GK, Stankovic I, Vignatelli L, Fanciulli A, CalandraBuonaura G, Seppi K, et al. The Movement Disorder Society criteriafor the diagnosis of multiple system atrophy.MovDisord 2022;37(6):1131–1148. https://pubmed.ncbi.nlm.nih.gov/35445419/
- Miki Y, Foti SC, Asi YT, Tsushima E, Quinn N, Ling H, et al.Improving diagnostic accuracy of multiple system atrophy: a clinicopathological study. Brain 2019;142(9):2813–282. https://pubmed.ncbi.nlm.nih.gov/1564476/
Co- author: Anastasia Bougea, National and Kapodistrian University of Athens | uoa · Division of Neurology, Athens, Greece
Publish on behalf of the Scientific Panel on Movement disorders