Objective: To report two cases of patients with unusual manifestation of pathologically confirmed PSP.

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.

Methods: A 60-year-old woman and a 67-year-old woman each had a phenotype of multiple system atrophy (MSA). The clinical diagnosis was based on the commonly used clinical diagnostic criteria. A detailed neuropathological examination of the brain was conducted post-mortem in both cases.

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.

Conclusions: 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 an effort to determine the most accurate clinical diagnosis of PSP, a revision of its current clinical diagnostic criteria would be appropriate. Supported by the grant: AZV No.15-32715A (Czech Republic).

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MDS Abstracts - https://www.mdsabstracts.org/abstract/unusual-phenotype-of-pathologically-confirmed-progressive-supranuclear-palsy-with-autonomic-dysfunction-and-cerebellar-ataxia/