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Phenotypic Spectrum of Progressive Supranuclear Palsy: Clinical Study and Apolipoprotein E Effect
Amina Nasri, Ikram Sghaier, Anis Neji, Alya Gharbi, Youssef Abida, Saloua Mrabet, Amina Gargouri, Mouna Ben Djebara, Imen Kacem, Riadh Gouider
J Mov Disord. 2024;17(2):158-170.   Published online January 30, 2024
DOI: https://doi.org/10.14802/jmd.23178
  • 2,162 View
  • 100 Download
  • 1 Web of Science
  • 2 Crossref
AbstractAbstract PDF
Objective
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 to assess the influence of apolipoprotein E (APOE) gene variants on PSP phenotypic expression.
Methods
In this 20-year cross-sectional study, we retrospectively reviewed the charts of all patients classified as PSP patients and recategorized them according to phenotype using the Movement Disorder Society criteria (2017). Phenotypes were divided into three subgroups, Richardson’s syndrome (PSP-RS), PSP-cortical (PSP with predominant frontal presentation [PSP-F] + PSP with predominant speech/language disorder [PSP-SL] + PSP with predominant corticobasal syndrome [PSP-CBS]) and PSP-subcortical (PSP with predominant parkinsonism [PSP-P] + PSP with progressive gait freezing [PSP-PGF] + PSP with predominant postural instability [PSP-PI] + PSP with predominant ocular motor dysfunction [PSP-OM] + PSP with cerebellar ataxia [PSP-C] + PSP with primary lateral sclerosis [PSP-PLS]), based on clinical presentation during the first 3 years after symptom onset, which defines the early disease stage. Clinical and neuropsychological assessment data were collected. Genotyping of APOE was performed using restriction fragment length polymorphism polymerase chain reaction and verified by Sanger sequencing.
Results
We included 112 PSP patients comprising 10 phenotypes classified into 48 PSP-RS, 34 PSP-cortical (PSP-CBS, 17.6%; PSP-F, 9.4%; PSP-SL, 8.2%) and 30 PSP-subcortical (PSP-P, 11.6%; PSP-PI, 8%; PSP-OM, 2.7%; PSP-PGF, 1.8%; PSP-C, 1.8%; PSP-PLS, 0.9%) subgroups. PSP-RS patients were older at disease onset (p = 0.009) and had more akinetic-rigid and levodopa-resistant parkinsonism (p = 0.006), while PSP-cortical patients had more tremors and asymmetric and/or levodopa-responsive parkinsonism (p = 0.025). Cognitive domains were significantly less altered in the PSP-subcortical subgroup. Overall, PSP-APOEε4 carriers developed parkinsonism earlier (p = 0.038), had earlier oculomotor dysfunction (p = 0.052) and had more altered cognitive profiles. The APOEε4 allele was also associated with a younger age of parkinsonism onset in the PSP-RS phenotype group (p = 0.026).
Conclusion
This study demonstrated the wide phenotypic spectrum of PSP among Tunisians. Disease onset and akinetic-rigid and levodopa-resistant parkinsonism were the hallmarks of the PSP-RS phenotype, while milder cognitive impairment was characteristic of the PSP-subcortical subgroup. The APOEε4 allele was associated with earlier parkinsonism and oculomotor dysfunction and seemed to play a role in defining a more altered cognitive profile in PSP patients.

Citations

Citations to this article as recorded by  
  • The Spectrum of Cognitive Impairment in Atypical Parkinsonism Syndromes: A Comprehensive Review of Current Understanding and Research
    Kurt A. Jellinger
    Diseases.2025; 13(2): 39.     CrossRef
  • Clinical and molecular predictors of survival among atypical parkinsonian syndromes in a North African tertiary referral center
    Ikram Sghaier, Amina Nasri, Amal Atrous, Youssef Abida, Alya Gharbi, Amira Souissi, Saloua Mrabet, Mouna Ben Djebara, Imen Kacem, Amina Gargouri-Berrechid, Riadh Gouider
    Journal of the Neurological Sciences.2024; 464: 123155.     CrossRef
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
  • 9,117 View
  • 131 Download
  • 9 Web of Science
  • 9 Crossref
AbstractAbstract 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  
  • A Short Cognitive and Neuropsychiatric Assessment Scale for Progressive Supranuclear Palsy
    Sonja Porsche, Martin Klietz, Stephan Greten, Ines A. Piot, Ida Jensen, Florian Wegner, Lan Ye, Lea Krey, Matthias Höllerhage, Monika Pötter‐Nerger, Molly Zeitzschel, Keno Hagena, Jan Kassubek, Patrick Süß, Jürgen Winkler, Daniela Berg, Steffen Paschen, L
    Movement Disorders Clinical Practice.2025;[Epub]     CrossRef
  • Rapid Cognitive Deterioration in Progressive Supranuclear Palsy: A 1‐Year Follow‐Up Study
    Xin‐Yi Li, Yu‐Jie Yang, Fang‐Yang Jiao, Gan Tang, Ming‐Jia Chen, Rui‐Xin Yao, Yi‐Xin Zhao, Xiao‐Niu Liang, Bo Shen, Yi‐Min Sun, Jian‐Jun Wu, Jian Wang, Feng‐Tao Liu
    Movement Disorders Clinical Practice.2024;[Epub]     CrossRef
  • 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

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