Abstract
Early detection and accurate diagnosis of neurodegenerative disorders may provide better epidemiological data, closer monitoring of disease progression and enable more specialised intervention. We analysed the clinical records and pathology of brain donations from 180 patients from two Brains for Dementia Research cohorts to determine the agreement between in-life clinical diagnosis and post-mortem pathological results. Clinical diagnosis was extracted from medical records and cases assigned into broad clinical groups; control, Alzheimer’s disease (AD), vascular dementia (CVD), dementia with Lewy bodies (DLB), frontotemporal dementia (FTD) and combined diseases. Pathology was assessed blindly, and cases categorised into; control, intermediate AD, severe AD, CVD, AD and CVD combined, DLB, AD and DLB combined and frontotemporal lobar degeneration (FTLD), according to the major contributing pathologies. In more than a third of cases clinical diagnosis was different from final neuropathological diagnosis. The majority of AD, DLB and control clinical groups matched the pathological diagnosis; however, thirty-five percent of clinical AD cases showed additional prominent CVD or DLB pathology which had not been diagnosed clinically and twenty-five percent of clinical control cases were found to have intermediate Tau pathology (modified Braak stage III–IV) or CVD. CVD and AD + CVD clinical groups showed an average of only thirty-two percent pathological correlation, the majority actually having no CVD, and fifty-three percent of pathologically identified FTLD cases had been incorrectly clinically diagnosed. Our results underlie the importance of neuropathological confirmation of clinical diagnosis. The relatively low accuracy of clinical diagnosis demonstrates the need for standardised and validated diagnostic assessment procedures.
Highlights
Research shows that most people currently living with dementia have not received a formal diagnosis, with only 20–50% of dementia cases in high-income countries being formally recognised and documented in primary care settings (Alzheimer’s Disease International World Alzheimer Report 2011)
37 out of the 75 clinical Alzheimer’s disease (AD) cases were a direct match pathologically, with most of these cases being classified as severe AD, a further of these clinical AD cases had coexisting dementia with Lewy bodies (DLB) or CVD pathology that had not been detected clinically (Table 3)
The CVD and AD + CVD clinical groups had a wider range of different pathological diagnoses, though many of these had either severe AD pathology or mixed pathology of either AD + CVD or AD + DLB
Summary
Research shows that most people currently living with dementia have not received a formal diagnosis, with only 20–50% of dementia cases in high-income countries being formally recognised and documented in primary care settings (Alzheimer’s Disease International World Alzheimer Report 2011). This number is much greater in low- and middle-income countries. Increased reliability of diagnosis would allow for the progression of the disease to be monitored more closely and provide an opportunity for more accurate determination of the specific dementia subtype This would enable more specialised intervention and treatment at an earlier stage of the disease, before extensive neurochemical and neuropathological changes have occurred
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