Unusual phenotype of pathologically confirmed progressive supranuclear palsy with autonomic dysfunction and cerebellar ataxia

BACKGROUND Based on the results of recent multicenter clinical-pathological studies, it seems that the clinical heterogeneity of progressive supranuclear palsy (PSP) is much broader than previously thought. We will report 2 cases of patients with unusual manifestation of pathologically confirmed PSP. METHODS Two female patients were diagnosed with the parkinsonian phenotype of multiple system atrophy (MSAP) according to current clinical diagnostic criteria at the ages of 55 and 60 years, respectively. The patients were followed up for the next 5 and 7 years. In both cases, a detailed neuropathological examination of the brain was conducted postmortem. RESULTS In the first case, the overall pathological picture corresponded with the diagnosis of 4R tauopathy. In the second case, the brain pathology corresponded with a combination of 4R tauopathy and neocortical amyloidopathy. CONCLUSION Some of the main symptoms of MSA, such as cerebellar ataxia and orthostatic hypotension, are not rare parts of the clinical picture of PSP. PSP can thus be mistakenly diagnosed as MSA. In order to determine the most accurate clinical diagnosis of PSP, a revision of its current clinical diagnostic criteria seems appropriate.