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Original Article Phenotypic spectrum of Progressive Supranuclear Palsy: Clinical study and APOE effect
Amina NASRI1,2,3, Ikram SGHAIER1,3, Anis NEJI1, Alya GHARBI1,2,3, Youssef ABIDA1,2,3, Saloua MRABET1,2,3, Amina GARGOURI1,2,3, Mouna BEN DJEBARA1,2,3, Imen KACEM1,2,3, Riadh GOUIDER1,2,3corresp_icon

DOI: https://doi.org/10.14802/jmd.23178 [Accepted]
Published online: January 30, 2024
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1Neurology Department, LR18SP03, Razi University Hospital, 1 rue des orangers Manouba, 2010, Tunis, Tunisia
2Faculty of Medicine of Tunis, University of Tunis El Manar, 15, Rue Djebel Akhdhar, La Rabta, 1007, Tunis, Tunisia
3Clinical Investigation Center (CIC) “Neurosciences and Mental Health”, Razi University Hospital, 1 rue des orangers Manouba, 2010, Tunis, Tunisia
Corresponding author:  Riadh GOUIDER, Tel: +216 70 162 243, Fax: +216 71 601 300, 
Email: riadh.gouider@gnet.tn
Received: 9 September 2023   • Revised: 8 December 2023   • Accepted: 30 January 2024

Objectives
Progressive supranuclear palsy (PSP)is a rare neurodegenerative disorder encompassing several phenotypes with various motor and cognitive deficits.We aimed to study motor and cognitive characteristics across PSP phenotypes,and assess the influence of the Apolipoprotein E (APOE)gene variants on PSP phenotypic expression.
Materials and Methods
In 20-year-cross-sectional study, we retrospectively reviewed the charts of all patients classified as PSP and re-categorized them into phenotypes using the MDS-2017 criteria. Phenotypes were divided into three subgroups based on the clinical presentation during the first 3 years after symptoms’ onset, which defines the early disease stage:Richardson’s syndrome (PSP-RS), PSP-cortical (PSP-F+PSP-SL+PSP-CBS) and PSP-subcortical(PSP-P+PSP-PGF+PSP-PI+PSP-OM+PSP-C+PSP-PLS).Data on clinical and neuropsychological assessments were collected.Genotyping of APOE was performed using the RFLP-PCR and verified by Sanger sequencing.
Results
We included 112 PSP patients comprising 10 phenotypes classified into 48PSP-RS, 34PSP-cortical(17.6%PSP-CBS,9.4%PSP-F,8.2%PSP-SL)and 30 PSP-subcortical(11.6%PSP-P,8%PSP-PI, 2.6%PSP-OM,1.8%PSP-PGF,1.8%PSP-C,0.9%PSP-PLS) subgroups. PSP-RS cases had older age of onset(p=0.009)and more akinetic-rigid and levodopa resistant parkinsonism(p=0.006),while PSP-cortical cases had more tremor and asymmetric and/or levodopa responsive parkinsonism(p=0.025).Cognitive domains were significantly less altered among PSP-subcortical subgroup.Overall,PSP-APOEε4 carriers developed parkinsonism earlier (p=0.019),had earlier oculomotor dysfunction(p=0.052) and more altered cognitive profile.It was also associated with younger age of parkinsonism onset in PSP-RS phenotype(p=0.026).
Conclusion
This study demonstrated the wide phenotypic spectrum of PSP among Tunisians.Later disease onset and akinetic-rigid and levodopa resistant parkinsonism were the hallmarks of PSP-RS phenotype,while milder cognitive impairment was characteristic of PSP-subcortical subgroup.APOEε4 allele was associated to earlier parkinsonism and oculomotor dysfunction and seemed to play a role in defining a more altered cognitive profile in PSP patients.

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