Objective: To describe the clinical and imaging features of the different phenotypes of progressive supranuclear palsy (PSP).

Background: PSP is a neuropathologically defined disease entity with a wide range of overlapping clinical presentations. The clinical spectrum of PSP has grown since the description of the first clinical syndrome now termed PSP-Richardson’s syndrome (PSP-RS). with the increasing description of several atypical phenotypes.

Method: A retrospective study of 16 years (2003-2018) including patients diagnosed with PSP according to the 2017 MDS-PSP criteria followed in the Department of Neurology of Razi University Hospital in Tunisia. Demographic, clinical and imaging features were analyzed and compared across the different phenotypes.

Results: Forty-six patients were included (sex-ratio=1.19; mean age= 63.5 years; mean age of onset= 62.7 years).The most frequent symptoms at onset were akinesia and falls. Patients had parkinsonian syndrome of PIGD subtype in 95%. All patients had supranuclear oculomotor disorders. Frontal dysfunction was the most frequent cognitive trouble(82.3%). Phenotypic spectrum included 33.4% PSP-RS, 21.7% PSP-parkinsonism (PSP-P), 10.8% PSP-corticobasal syndrom (PSP-CBD), 10.8% PSP-postural instability (PSP-PI), 8.7% PSP-primary progressive aphasia, 6.5% PSP-frontal (PSP-F), 4.3% PSP-oculomotor, 2.2% PSP-amyotrophic lateral sclerosis (ALS), 2.2% PSP-pure akinesia with gait freezing and 2.2% PSP-cerebellar ataxia. Mesencephalic atrophy was found in 23.5% of cases (in PSPS-RS,-P, -CBD and -PPA). PSP-PAGF had the youngest age at onset. Executive dysfunction and behavioral disorders were more marked in PSP-F. PSP-P and PSP-PI had the highest UPDRS scores (respectively 49.6 and 62.5). PSP-RS had the best dopa responsiveness (33.5%).

Conclusion: Our study showed the large phenotypic spectrum of PSP. In fact, all ten phenotypes described in MDS-PSP classification were found in our cohort. Defining different phenotypes may increase the accuracy of PSP diagnosis at early stages. Further studies are required to better specify the role of genetics, the singularities of our population and the subsequent prognostic and therapeutic implications.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/phenotypic-spectrum-of-progressive-supranuclear-palsy-in-a-tunisian-cohort/