Objective: Description of four cases of definite PSP and assessment of the relation between clinical characteristics and severity and topographical distribution of tau pathology pathology.

Background: Progressive Supranuclear Palsy (PSP) is a clinically heterogeneous neurodegenerative disease with diagnosis difficulties in the early stages. The accuracy of clinical prediction of PSP pathology remains challenging.

Method: Retrospective and observational analysis of the clinical-radiological and neuropathological features of four cases with definitive PSP, from Portuguese Brain Bank. The neuropathological severity was assessed blinded for clinical and imaging.

Results: The age of onset of symptoms varied between 53-63 years and duration of the disease between 8-15 years. Two cases (A and B) corresponded to the diagnosis of PSP-Richardson syndrome from the beginning, although case B presented with right upper limb dystonia. Two cases had greater phenotypic diversity: Case C presented with hemidystonia, hand and left limb apraxia, early cognitive and behavioral changes; case D present a severe dystonia, akinetic-rigid syndrome without postural instability or falls until late stage of the disease, hemidystonia with left alien limb and behavioral changes. Two of the cases fulfilled brain MRI criteria for PSP ad initium, while in the others patients, criteria was meet later on the disease course. All cases presented typical neuropathological characteristics of PSP. In case C, it was observed a predominance of upper cortical tau pathology compared to the basal ganglia / brainstem, and the presence of Alzheimer’s disease co-pathology (Braak IV stage). In case D, severe neuronal loss of globus pallidus, substantia nigra and subtalamic nucleus (“pallido-nigro-luysial atrophy – PNLA”) was observed.

Conclusion: The analysis of these cases confirms the phenotypic diversity of the PSP and the relation with the neuropathological findings. We highlight the case D which present clinical characteristics described in the PNLA variant of the PSP.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/clinical-heterogeneity-and-neuropathological-correlation-in-progressive-supranuclear-palsy-description-of-4-cases/