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Original Article
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
  • 1,190 View
  • 71 Download
AbstractAbstract PDF
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.
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.
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).
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.
Review Articles
Immunotherapy Targeting Neurodegenerative Proteinopathies: α-Synucleinopathies and Tauopathies
Junghwan Shin, Han-Joon Kim, Beomseok Jeon
J Mov Disord. 2020;13(1):11-19.   Published online December 19, 2019
  • 10,934 View
  • 462 Download
  • 19 Web of Science
  • 20 Crossref
AbstractAbstract PDF
α-Synuclein and tau deposition in the central nervous system is responsible for various parkinsonian syndromes, including Parkinson’s disease, multiple system atrophy, dementia with Lewy bodies, progressive supranuclear palsy and corticobasal degeneration. Emerging evidence has suggested that pathologic α-synuclein and tau are transmitted from cell to cell and further accelerate the aggregation of pathologic proteins in neighboring cells. Furthermore, extracellular pathologic proteins have also been reported to provoke inflammatory responses that lead to neurodegeneration. Therefore, immunotherapies targeting extracellular α-synuclein and tau have been proposed as potential disease-modifying strategies. In this review, we summarize completed phase I trials and ongoing phase II trials of immunotherapies against α-synuclein and tau and further discuss concerns and hurdles to overcome in the future.


Citations to this article as recorded by  
  • Overlaps and divergences between tauopathies and synucleinopathies: a duet of neurodegeneration
    Wen Li, Jia-Yi Li
    Translational Neurodegeneration.2024;[Epub]     CrossRef
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    Salma M. Al-Tuwairqi, Asma A. Badrah
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  • Evaluation of an Adoptive Cellular Therapy-Based Vaccine in a Transgenic Mouse Model of α-synucleinopathy
    Winston T. Chu, Jesse Hall, Anjela Gurrala, Alexander Becsey, Shreya Raman, Michael S. Okun, Catherine T. Flores, Benoit I. Giasson, David E. Vaillancourt, Vinata Vedam-Mai
    ACS Chemical Neuroscience.2023; 14(2): 235.     CrossRef
  • Direct digital sensing of protein biomarkers in solution
    Georg Krainer, Kadi L. Saar, William E. Arter, Timothy J. Welsh, Magdalena A. Czekalska, Raphaël P. B. Jacquat, Quentin Peter, Walther C. Traberg, Arvind Pujari, Akhila K. Jayaram, Pavankumar Challa, Christopher G. Taylor, Lize-Mari van der Linden, Titus
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  • Inflammation in multiple system atrophy
    Marta Leńska-Mieciek, Natalia Madetko-Alster, Piotr Alster, Leszek Królicki, Urszula Fiszer, Dariusz Koziorowski
    Frontiers in Immunology.2023;[Epub]     CrossRef
  • Immunisation with UB-312 in the Thy1SNCA mouse prevents motor performance deficits and oligomeric α-synuclein accumulation in the brain and gut
    Jacqui T. Nimmo, Harry Smith, Chang Yi Wang, Jessica L. Teeling, James A. R. Nicoll, Ajay Verma, Jean-Cosme Dodart, Zhi Liu, Feng Lin, Roxana O. Carare
    Acta Neuropathologica.2022; 143(1): 55.     CrossRef
  • Efficacy and immunogenicity of MultiTEP-based DNA vaccines targeting human α-synuclein: prelude for IND enabling studies
    Changyoun Kim, Armine Hovakimyan, Karen Zagorski, Tatevik Antonyan, Irina Petrushina, Hayk Davtyan, Gor Chailyan, Jonathan Hasselmann, Michiyo Iba, Anthony Adame, Edward Rockenstein, Marcell Szabo, Mathew Blurton-Jones, David H. Cribbs, Anahit Ghochikyan,
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  • Evidence of Inflammation in Parkinson’s Disease and Its Contribution to Synucleinopathy
    Thuy Thi Lai, Yun Joong Kim, Hyeo-il Ma, Young Eun Kim
    Journal of Movement Disorders.2022; 15(1): 1.     CrossRef
  • Slowing Parkinson’s Disease Progression with Vaccination and Other Immunotherapies
    Dhanya Vijayakumar, Joseph Jankovic
    CNS Drugs.2022; 36(4): 327.     CrossRef
  • Amyloid β, Tau, and α-Synuclein aggregates in the pathogenesis, prognosis, and therapeutics for neurodegenerative diseases
    Urmi Sengupta, Rakez Kayed
    Progress in Neurobiology.2022; 214: 102270.     CrossRef
  • Modeling the dynamics of innate immune response to Parkinson disease with therapeutic approach
    Asma Badrah, Salma Al-Tuwairqi
    Physical Biology.2022; 19(5): 056004.     CrossRef
  • Potential of food-derived bioactive peptides in alleviation and prevention of Alzheimer's disease
    Le Zhao, Dan Li, Xiaofen Qi, Kaifang Guan, Haoran Chen, Rongchun Wang, Ying Ma
    Food & Function.2022; 13(21): 10851.     CrossRef
  • Harnessing the immune system for the treatment of Parkinson’s disease
    Vinata Vedam-Mai
    Brain Research.2021; 1758: 147308.     CrossRef
  • The Contribution of Microglia to Neuroinflammation in Parkinson’s Disease
    Katja Badanjak, Sonja Fixemer, Semra Smajić, Alexander Skupin, Anne Grünewald
    International Journal of Molecular Sciences.2021; 22(9): 4676.     CrossRef
  • Viral alpha-synuclein knockdown prevents spreading synucleinopathy
    Sindhu Menon, Rikke H Kofoed, Fadl Nabbouh, Kristiana Xhima, Yasmeen Al-Fahoum, Tammy Langman, Howard T J Mount, Lamya S Shihabuddin, S Pablo Sardi, Paul E Fraser, Joel C Watts, Isabelle Aubert, Anurag Tandon
    Brain Communications.2021;[Epub]     CrossRef
  • Immunotherapies for Aging-Related Neurodegenerative Diseases—Emerging Perspectives and New Targets
    Somin Kwon, Michiyo Iba, Changyoun Kim, Eliezer Masliah
    Neurotherapeutics.2020; 17(3): 935.     CrossRef
  • The Functional Roles and Applications of Immunoglobulins in Neurodegenerative Disease
    Kyu-Young Sim, Kyeong Chan Im, Sung-Gyoo Park
    International Journal of Molecular Sciences.2020; 21(15): 5295.     CrossRef
  • Novel antibodies detect additional α-synuclein pathology in synucleinopathies: potential development for immunotherapy
    Jacqui T. Nimmo, Ajay Verma, Jean-Cosme Dodart, Chang Yi Wang, Jimmy Savistchenko, Ronald Melki, Roxana O. Carare, James A. R. Nicoll
    Alzheimer's Research & Therapy.2020;[Epub]     CrossRef
  • New Insights Into Drug Discovery Targeting Tau Protein
    Yoshiyuki Soeda, Akihiko Takashima
    Frontiers in Molecular Neuroscience.2020;[Epub]     CrossRef
Tau Positron Emission Tomography Imaging in Degenerative Parkinsonisms
Chul Hyoung Lyoo, Hanna Cho, Jae Yong Choi, Young Hoon Ryu, Myung Sik Lee
J Mov Disord. 2018;11(1):1-12.   Published online January 23, 2018
  • 11,759 View
  • 424 Download
  • 11 Web of Science
  • 6 Crossref
AbstractAbstract PDF
In recent years, several radiotracers that selectively bind to pathological tau proteins have been developed. Evidence is emerging that binding patterns of in vivo tau positron emission tomography (PET) studies in Alzheimer’s disease (AD) patients closely resemble the distribution patterns of known neurofibrillary tangle pathology, with the extent of tracer binding reflecting the clinical and pathological progression of AD. In Lewy body diseases (LBD), tau PET imaging has clearly revealed cortical tau burden with a distribution pattern distinct from AD and increased cortical binding within the LBD spectrum. In progressive supranuclear palsy, the globus pallidus and midbrain have shown increased binding most prominently. Tau PET patterns in patients with corticobasal syndrome are characterized by asymmetrical uptake in the motor cortex and underlying white matter, as well as in the basal ganglia. Even in the patients with multiple system atrophy, which is basically a synucleinopathy, 18F-flortaucipir, a widely used tau PET tracer, also binds to the atrophic posterior putamen, possibly due to off-target binding. These distinct patterns of tau-selective radiotracer binding in the various degenerative parkinsonisms suggest its utility as a potential imaging biomarker for the differential diagnosis of parkinsonisms.


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    Anastassia M. Mena, Antonio P. Strafella
    Clinical Parkinsonism & Related Disorders.2022; 7: 100155.     CrossRef
  • Integrated 18F-T807 Tau PET, Structural MRI, and Plasma Tau in Tauopathy Neurodegenerative Disorders
    Cheng-Hsuan Li, Ta-Fu Chen, Ming-Jang Chiu, Ruoh-Fang Yen, Ming-Chieh Shih, Chin-Hsien Lin
    Frontiers in Aging Neuroscience.2021;[Epub]     CrossRef
  • Dual-Phase 18F-FP-CIT PET in Corticobasal Syndrome
    Je Hong Min, Dong Gyu Park, Jung Han Yoon, Young Sil An
    Clinical Nuclear Medicine.2019; 44(1): e49.     CrossRef
  • Tau Positron-Emission Tomography in Former National Football League Players
    Robert A. Stern, Charles H. Adler, Kewei Chen, Michael Navitsky, Ji Luo, David W. Dodick, Michael L. Alosco, Yorghos Tripodis, Dhruman D. Goradia, Brett Martin, Diego Mastroeni, Nathan G. Fritts, Johnny Jarnagin, Michael D. Devous, Mark A. Mintun, Michael
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Clinical Approach to Progressive Supranuclear Palsy
Helen Ling
J Mov Disord. 2016;9(1):3-13.   Published online January 25, 2016
  • 35,247 View
  • 1,271 Download
  • 51 Web of Science
  • 47 Crossref
AbstractAbstract PDF
Sixty years ago, Steele, Richardson and Olszewski designated progressive supranuclear palsy (PSP) as a new clinicopathological entity in their seminal paper. Since then, in addition to the classic Richardson’s syndrome (RS), different clinical phenotypic presentations have been linked with this four-repeat tauopathy. The clinical heterogeneity is associated with variability of regional distribution and severity of abnormal tau accumulation and neuronal loss. In PSP subtypes, the presence of certain clinical pointers may be useful for antemortem prediction of the underlying PSP-tau pathology. Midbrain atrophy on conventional MRI correlates with the clinical phenotype of RS but is not predictive of PSP pathology. Cerebrospinal fluid biomarkers and tau ligand positron emission tomography are promising biomarkers of PSP. A multidisciplinary approach to meet the patients’ complex needs is the current core treatment strategy for this devastating disorder.


Citations to this article as recorded by  
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    Walter Pirker, Regina Katzenschlager
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    Steve Vucic, Matthew C. Kiernan
    Neurotherapeutics.2017; 14(1): 91.     CrossRef
  • Advances in progressive supranuclear palsy: new diagnostic criteria, biomarkers, and therapeutic approaches
    Adam L Boxer, Jin-Tai Yu, Lawrence I Golbe, Irene Litvan, Anthony E Lang, Günter U Höglinger
    The Lancet Neurology.2017; 16(7): 552.     CrossRef
Genetics of Progressive Supranuclear Palsy
Sun Young Im, Young Eun Kim, Yun Joong Kim
J Mov Disord. 2015;8(3):122-129.   Published online September 10, 2015
  • 28,147 View
  • 386 Download
  • 40 Web of Science
  • 36 Crossref
AbstractAbstract PDF
Progressive supranuclear palsy (PSP) is a neurodegenerative syndrome that is clinically characterized by progressive postural instability, supranuclear gaze palsy, parkinsonism and cognitive decline. Pathologically, diagnosis of PSP is based on characteristic features, such as neurofibrillary tangles, neutrophil threads, tau-positive astrocytes and their processes in basal ganglia and brainstem, and the accumulation of 4 repeat tau protein. PSP is generally recognized as a sporadic disorder; however, understanding of genetic background of PSP has been expanding rapidly. Here we review relevant publications to outline the genetics of PSP. Although only small number of familial PSP cases have been reported, the recognition of familial PSP has been increasing. In some familial cases of clinically probable PSP, PSP pathologies were confirmed based on NINDS neuropathological diagnostic criteria. Several mutations in MAPT, the gene that causes a form of familial frontotemporal lobar degeneration with tauopathy, have been identified in both sporadic and familial PSP cases. The H1 haplotype of MAPT is a risk haplotype for PSP, and within H1, a sub-haplotype (H1c) is associated with PSP. A recent genome-wide association study on autopsyproven PSP revealed additional PSP risk alleles in STX6 and EIF2AK3. Several heredodegenerative parkinsonian disorders are referred to as PSP-look-alikes because their clinical phenotype, but not their pathology, mimics PSP. Due to the fast development of genomics and bioinformatics, more genetic factors related to PSP are expected to be discovered. Undoubtedly, these studies will provide a better understanding of the pathogenesis of PSP and clues for developing therapeutic strategies.


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