Objective: This study aimed to evaluate the pathological evidence of the core and supportive clinical features of multiple system atrophy (MSA) based on The Movement Disorder Society (MDS) Criteria for MSA.

Background: Multiple system atrophy is a progressive neurodegenerative disease clinically characterised by parkinsonism, cerebellar ataxia, and autonomic dysfunction, classified into MSA-P (parkinsonian) and MSA-C (cerebellar) subtypes. While the MDS MSA criteria were established in 2022 to improve diagnostic accuracy, the evidence of clinical presentations confirmed with pathological findings remains incompletely characterised.

Method: A systematic literature review was conducted according to the PRISMA guideline to identify studies that included autopsy-confirmed MSA with core and supportive clinical features. The search encompassed articles published from the original publication of Shy Drager Syndrome in 1969 to February 2025 on the PubMed, Scopus, and Web of Science databases.

Results: Amongst the 480 reviewed abstracts, 12 articles met the criteria. All core clinical features in the MDS criteria were confirmed by pathological findings [figure 1]. Parkinsonism was more frequently documented in MSA-P than in MSA-C (98% vs. 69%), and associated with poor levodopa (LD) responsiveness [figure 2]. Conversely, good responses were reported in 5-41% of MSA patients, though details on temporal characteristics were lacking. Cerebellar impairment was more observed in MSA-C than in MSA-P (85% vs. 45%), while neurogenic orthostatic hypotension and urinary problems were documented in both subtypes at a similar frequency [figure 3]. Amongst supportive features, postural instability was the most frequent (75.38%), followed by dysarthria and dysphagia (75% and 52%), though the specified three-year cut-off criterion was not confirmed. Downgaze supranuclear palsy, considered as the exclusion criterion for MSA, was identified in four pathological-verified studies, although the possibility of coexisting pathologies cannot be excluded.

Conclusion: Pathological verification of clinical criteria for MSA supports the validity of core diagnostic features, though not all supportive features are confirmed by pathological studies. Most studies lack detailed clinical characteristics and timelines for each presentation. Redefining and prioritising supportive clinical signs could enhance early diagnostic accuracy for MSA.

Table 1.

Figure 1.

Figure 2.

Figure 3.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/pathology-meets-clinical-practice-unveiling-the-pathological-evidence-of-clinical-signs-in-multiple-system-atrophy/