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Original Articles
- Phenotypic spectrum of Progressive Supranuclear Palsy: Clinical study and APOE effect
- Amina NASRI, Ikram SGHAIER, Anis NEJI, Alya GHARBI, Youssef ABIDA, Saloua MRABET, Amina GARGOURI, Mouna BEN DJEBARA, Imen KACEM, Riadh GOUIDER
- Received September 9, 2023 Accepted January 30, 2024 Published online January 30, 2024
- DOI: https://doi.org/10.14802/jmd.23178 [Accepted]
- 339 View
- 49 Download
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Abstract
PDF - 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.
- Prospective Characterization of Cognitive Function in Typical and ‘Brainstem Predominant’Progressive Supranuclear Palsy Phenotypes
- Young-Eun C Lee, David R Williams, Jacqueline F I Anderson
- J Mov Disord. 2018;11(2):72-77. Published online May 30, 2018
- DOI: https://doi.org/10.14802/jmd.17067
- 7,968 View
- 126 Download
- 7 Web of Science
- 7 Crossref
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Abstract
PDF
- Objective
Clinicopathological studies over the last decade have broadened the clinical spectrum of progressive supranuclear palsy (PSP) to include several distinct clinical syndromes. We examined the cognitive profiles of patients with PSP-Richardson’s syndrome (PSP-RS) and two atypical ‘brainstem predominant’ PSP phenotypes (PSP-parkinsonism, PSP-P; and PSP-pure akinesia with gait freezing, PSP-PAGF) using a comprehensive neuropsychological battery.
Methods
Fourteen patients diagnosed as PSP-RS, three patients with PSP-P and four patients with PSP-PAGF were assessed using a comprehensive battery of neuropsychological tests.
Results
The typical PSP-RS subgroup demonstrated greater impairments in processing speed [t(19) = -4.10, p = 0.001 (d =1.66)] and executive function [t(19) = -2.63, p = 0.02 (d = 1.20)] compared to the ‘brainstem predominant’ PSP phenotype.
Conclusion
This is the first prospective study to demonstrate that PSP-RS and ‘brainstem predominant’ PSP phenotypes can be differentiated on cognitive grounds. These differences correspond with variations in pathological profiles reported in the literature. -
Citations
Citations to this article as recorded by
- Pathomechanisms of cognitive impairment in progressive supranuclear palsy
Kurt A. Jellinger
Journal of Neural Transmission.2023; 130(4): 481. CrossRef - Differential Diagnosis of Rare Subtypes of Progressive Supranuclear Palsy and PSP-Like Syndromes—Infrequent Manifestations of the Most Common Form of Atypical Parkinsonism
Patrycja Krzosek, Natalia Madetko, Anna Migda, Bartosz Migda, Dominika Jaguś, Piotr Alster
Frontiers in Aging Neuroscience.2022;[Epub] CrossRef - Clinical Spectrum of Tauopathies
Nahid Olfati, Ali Shoeibi, Irene Litvan
Frontiers in Neurology.2022;[Epub] CrossRef - Neuropsychological assessment could distinguish among different clinical phenotypes of progressive supranuclear palsy: A Machine Learning approach
Maria Grazia Vaccaro, Alessia Sarica, Andrea Quattrone, Carmelina Chiriaco, Maria Salsone, Maurizio Morelli, Aldo Quattrone
Journal of Neuropsychology.2021; 15(3): 301. CrossRef - “Parkinson’s disease” on the way to progressive supranuclear palsy: a review on PSP-parkinsonism
Ján Necpál, Miroslav Borsek, Bibiána Jeleňová
Neurological Sciences.2021; 42(12): 4927. CrossRef - The Progressive Supranuclear Palsy: Past and Present Aspects
Theodore P. Parthimos, Kleopatra H. Schulpis
Clinical Gerontologist.2020; 43(2): 155. CrossRef - Progressive Supranuclear Palsy—Parkinsonism Predominant (PSP-P)—A Clinical Challenge at the Boundaries of PSP and Parkinson's Disease (PD)
Piotr Alster, Natalia Madetko, Dariusz Koziorowski, Andrzej Friedman
Frontiers in Neurology.2020;[Epub] CrossRef
- Pathomechanisms of cognitive impairment in progressive supranuclear palsy
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