This study aimed to investigate whether cerebrospinal fluid (CSF) biomarkers could have helped the clinician in differential dementia diagnosis in case of clinically ambiguous diagnoses, as compared to autopsy-confirmed dementia diagnosis as gold standard. Twenty-two patients of our autopsy-confirmed dementia population totalling 157 patients had an ambiguous clinical diagnosis at CSF sampling and were included in statistical analysis. CSF levels of β-amyloid peptide (Aβ(1-42)), total tau protein (T-tau) and tau phosphorylated at threonine 181 (P-tau(181P)) were determined. A biomarker-based model was applied to discriminate between AD and NON-AD dementias. AD and NON-AD patients showed no significant differences in Aβ(1-42) and T-tau concentrations, whereas P-tau(181P) concentrations were significantly higher in AD compared to NON-AD patients. The biomarker-based diagnostic model correctly classified 18 of 22 (82%) patients with clinically ambiguous diagnoses. Using a biomarker-based model in patients with clinically ambiguous diagnoses, a correct diagnosis would have been established in the majority of autopsy-confirmed AD and NON-AD cases, indicating that biomarkers have an added diagnostic value in cases with ambiguous clinical diagnoses.
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