Refining the diagnostic accuracy of Parkinsonian disorders using metaphenomic annotation of the clinicopathological literature.

ABSTRACT: The diagnostic precision of Parkinsonian disorders is not accurate enough. Even in expert clinics, up to one in five diagnoses are incorrect. Gold standard diagnosis is post-mortem confirmation of the underlying proteinopathy; however, many clinicopathological studies focus on either a single disease or frame analyses in one temporal direction that may underestimate the true extent of mis- and missed diagnoses. We identified 125 published clinicopathological studies since 1992, extracted phenotype information for ~9200 post-mortem cases, curated the data in a standardised machine-readable format and used this to develop a probabilistic model to quantify diagnostic likelihood based on clinical observations. We found diagnostic accuracy was highest for multiple system atrophy (MSA, 92.8%) an

SUBMITTER: Massey Q 

PROVIDER: S-EPMC12603224 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature