Open AccessUnusual phenotype of pathologically confirmed progressive supranuclear palsy with autonomic dysfunction and cerebellar ataxia
Author(s) -
Kateřina Menšíková,
Lucie Tučková,
Jiří Ehrmann,
Petr Kaňovský
Publication year - 2016
Publication title -
medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.59
H-Index - 148
eISSN - 1536-5964
pISSN - 0025-7974
DOI - 10.1097/md.0000000000005237
Subject(s) - progressive supranuclear palsy , medicine , tauopathy , pathological , cerebellar ataxia , atrophy , pathology , ataxia , parkinsonism , spinocerebellar ataxia , orthostatic vital signs , radiology , disease , psychiatry , neurodegeneration , blood pressure
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.