What is the accuracy of the clinical diagnosis of multiple system atrophy? A clinicopathologic study
I. Litvan, C. G. Goetz, J. Jankovic, G. K. Wenning, V. Booth, J. J. Bartko, A. McKee, K. Jellinger, E. C. Lai, J. P. Brandel, M. Verny, K. R. Chaudhuri, R. K. Pearce and Y. Agid
Neuroepidemiology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20814-3559, USA.
BACKGROUND: The presentation of symptoms for multiple system atrophy (MSA)
varies. Because there are no specific markers for its clinical diagnosis,
the diagnosis rests on the results of the neuropathologic examination.
Despite several clinicopathologic studies, the diagnostic accuracy for MSA
is unknown. OBJECTIVES: To determine the accuracy for the clinical
diagnosis of MSA and to identify, as early as possible, those features that
would best predict MSA. DESIGN: One hundred five autopsy-confirmed cases of
MSA and related disorders (MSA [n=16], non-MSA [n=89]) were presented as
clinical vignettes to 6 neurologists (raters) who were unaware of the study
design. Raters identified the main clinical features and provided a
diagnosis based on descriptions of the patients' first and last clinic
visits. METHODS: Interrater reliability was evaluated with the use of kappa
statistics. Raters' diagnoses and those of the primary neurologists (who
followed up the patients) were compared with the autopsy-confirmed
diagnoses to estimate the sensitivity and positive predictive values at the
patients' first and last visits. Logistic regression analysis was used to
determine the best predictors to diagnose MSA. RESULTS: For the first visit
(median, 42 months after the onset of symptoms), the raters' sensitivity
(median, 56%; range, 50%-69%) and positive predictive values (median, 76%;
range, 61%-91%) for the clinical diagnosis of MSA were not optimal. For the
last visit (74 months after the onset of symptoms), the raters' sensitivity
(median, 69%; range, 56%-94%) and positive predictive values (median, 80%;
range, 77%-92%) improved. Primary neurologists correctly identified 25% and
50% of the patients with MSA at the first and last visits, respectively.
False-negative and -positive misdiagnoses frequently occurred in patients
with Parkinson disease and progressive supranuclear palsy. Early severe
autonomic failure, absence of cognitive impairment, early cerebellar
symptoms, and early gait disturbances were identified as the best
predictive features to diagnose MSA. CONCLUSIONS: The low sensitivity for
the clinical diagnosis of MSA, particularly among neurologists who followed
up these patients in the tertiary centers, suggests that this disorder is
underdiagnosed. The misdiagnosis of MSA is usually due to its confusion
with Parkinson disease or progressive supranuclear palsy, thus compromising
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