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Case Report
Loss-of-Function Variant in the SMPD1 Gene in Progressive Supranuclear Palsy-Richardson Syndrome Patients of Chinese Ancestry
Shen-Yang Lim, Ai Huey Tan, Jia Nee Foo, Yi Jayne Tan, Elaine GY Chew, Azlina Ahmad Annuar, Alfand Marl Dy Closas, Azalea Pajo, Jia Lun Lim, Yi Wen Tay, Anis Nadhirah, Jia Wei Hor, Tzi Shin Toh, Lei Cheng Lit, Jannah Zulkefli, Su Juen Ngim, Weng Khong Lim, Huw R. Morris, Eng-King Tan, Adeline SL Ng
J Mov Disord. 2024;17(2):213-217.   Published online January 31, 2024
DOI: https://doi.org/10.14802/jmd.24009
  • 1,756 View
  • 63 Download
  • 1 Crossref
AbstractAbstract PDFSupplementary Material
Lysosomal dysfunction plays an important role in neurodegenerative diseases, including Parkinson’s disease (PD) and possibly Parkinson-plus syndromes such as progressive supranuclear palsy (PSP). This role is exemplified by the involvement of variants in the GBA1 gene, which results in a deficiency of the lysosomal enzyme glucocerebrosidase and is the most frequently identified genetic factor underlying PD worldwide. Pathogenic variants in the SMPD1 gene are a recessive cause of Niemann–Pick disease types A and B. Here, we provide the first report on an association between a loss-of-function variant in the SMPD1 gene present in a heterozygous state (p.Pro332Arg/p.P332R, which is known to result in reduced lysosomal acid sphingomyelinase activity), with PSP-Richardson syndrome in three unrelated patients of Chinese ancestry.

Citations

Citations to this article as recorded by  
  • Parkinson’s Disease is Predominantly a Genetic Disease
    Shen-Yang Lim, Christine Klein
    Journal of Parkinson's Disease.2024; 14(3): 467.     CrossRef
Original Articles
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
  • 1,146 View
  • 70 Download
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.
Retinal Thinning as a Marker of Disease Severity in Progressive Supranuclear Palsy
Yueting Chen, Haotian Wang, Bo Wang, Wenbo Li, Panpan Ye, Wen Xu, Peng Liu, Xinhui Chen, Zhidong Cen, Zhiyuan Ouyang, Sheng Wu, Xiaofeng Dou, Yi Liao, Hong Zhang, Mei Tian, Wei Luo
J Mov Disord. 2024;17(1):55-63.   Published online September 26, 2023
DOI: https://doi.org/10.14802/jmd.23102
  • 1,766 View
  • 221 Download
  • 1 Web of Science
  • 1 Crossref
AbstractAbstract PDFSupplementary Material
Objective
Progressive supranuclear palsy (PSP) involves a variety of visual symptoms that are thought to be partially caused by structural abnormalities of the retina. However, the relationship between retinal structural changes, disease severity, and intracranial alterations remains unknown. We investigated distinct retinal thinning patterns and their relationship with clinical severity and intracranial alterations in a PSP cohort.
Methods
We enrolled 19 patients with PSP (38 eyes) and 20 age-matched healthy controls (40 eyes). All of the participants underwent peripapillary and macular optical coherence tomography. Brain 11C-2β-carbomethoxy-3β-(4-fluorophenyl) tropane (11C-CFT) and 18F-fluorodeoxyglucose (18F-FDG) positron emission tomography imaging were also performed in patients with PSP. We investigated the association between retinal thickness changes and clinical features, striatal dopamine transporter availability, and cerebral glucose metabolism.
Results
The peripapillary retinal nerve fiber layer (pRNFL) and macula were significantly thinner in patients with PSP than in controls. The thickness of the superior sector of the pRNFL demonstrated a significant negative relationship with the Movement Disorder Society-Unified Parkinson’s Disease Rating Scale part III and Hoehn and Yahr staging scale scores. A significant negative correlation was found between outer inferior macular thickness and disease duration. Outer temporal macular thickness was positively correlated with Montreal Cognitive Assessment scores. In PSP, lower outer temporal macular thickness was also positively correlated with decreased dopamine transporter binding in the caudate.
Conclusion
The pRNFL and macular thinning may be candidate markers for monitoring disease severity. Additionally, macular thinning may be an in vivo indicator of nigrostriatal dopaminergic cell degeneration in PSP patients.

Citations

Citations to this article as recorded by  
  • Optical Coherence Tomography as a Biomarker in the Differential Diagnosis between Parkinson’s Disease and Atypical Parkinsonian Syndromes: A Narrative Review
    Stella Karatzetzou, Dimitrios Parisis, Serafeim Ioannidis, Theodora Afrantou, Panagiotis Ioannidis
    Applied Sciences.2024; 14(6): 2491.     CrossRef
Review Article
Environmental Risk Factors for Progressive Supranuclear Palsy
Hee Kyung Park, Sindana D. Ilango, Irene Litvan
J Mov Disord. 2021;14(2):103-113.   Published online May 26, 2021
DOI: https://doi.org/10.14802/jmd.20173
  • 10,620 View
  • 282 Download
  • 6 Web of Science
  • 9 Crossref
AbstractAbstract PDF
Typically, progressive supranuclear palsy (PSP) is clinically characterized by slow vertical saccades or supranuclear gaze palsy, levodopa-resistant parkinsonism with predominant axial symptoms, and cognitive executive impairment. Over the past decades, various PSP phenotypes, including PSP with predominant parkinsonism, PSP with corticobasal syndrome, PSP with progressive gait freezing, and PSP with predominant frontal dysfunction, have been identified from pathologically confirmed cases. Expanding knowledge led to new diagnostic criteria for PSP that with increased disease awareness led to increased PSP prevalence estimates. The identification of environmental and modifiable risk factors creates an opportunity to intervene and delay the onset of PSP or slow disease progression. To date, despite the increasing number of publications assessing risk factors for PSP, few articles have focused on environmental and lifestyle risk factors for this disorder. In this article, we reviewed the literature investigating the relationship between PSP and several environmental and other modifiable lifestyle risk factors. In our review, we found that exposures to toxins related to diet, metals, well water, and hypertension were associated with increased PSP risk. In contrast, higher education and statins may be protective. Further case-control studies are encouraged to determine the exact role of these factors in the etiopathogenesis of PSP, which in turn would inform strategies to prevent and reduce the burden of PSP.

Citations

Citations to this article as recorded by  
  • Parkinson’s Disease is Predominantly a Genetic Disease
    Shen-Yang Lim, Christine Klein
    Journal of Parkinson's Disease.2024; 14(3): 467.     CrossRef
  • Progressive supranuclear palsy, a case report
    A. Ortiz, F. Troya, J. de Vera, E. Vázquez
    Archivos de la Sociedad Española de Oftalmología (English Edition).2024;[Epub]     CrossRef
  • Progressive Supranuclear Palsy Syndrome: An Overview
    Eduardo Ichikawa-Escamilla, Rodrigo A. Velasco-Martínez, Laura Adalid-Peralta
    IBRO Neuroscience Reports.2024; 16: 598.     CrossRef
  • Progressive supranuclear palsy’s economical burden: the use and costs of healthcare resources in a large health provider in Israel
    Yael Barer, Raanan Cohen, Meital Grabarnik-John, Xiaolan Ye, Jorge Zamudio, Tanya Gurevich, Gabriel Chodick
    Journal of Neurology.2023; 270(8): 3770.     CrossRef
  • The Pesticide Chlordecone Promotes Parkinsonism-like Neurodegeneration with Tau Lesions in Midbrain Cultures and C. elegans Worms
    Valeria Parrales-Macias, Patrick P. Michel, Aurore Tourville, Rita Raisman-Vozari, Stéphane Haïk, Stéphane Hunot, Nicolas Bizat, Annie Lannuzel
    Cells.2023; 12(9): 1336.     CrossRef
  • The prevalence and incidence of progressive supranuclear palsy and corticobasal syndrome: a systematic review and meta-analysis
    Shane Lyons, Dominic Trépel, Tim Lynch, Richard Walsh, Sean O’Dowd
    Journal of Neurology.2023; 270(9): 4451.     CrossRef
  • Analysis of Genetic and MRI Changes, Blood Markers, and Risk Factors in a Twin Pair Discordant of Progressive Supranuclear Palsy
    Aliz Persely, Beatrix Beszedics, Krisztina Paloczi, Marton Piroska, Amirreza Alijanpourotaghsara, David Strelnikov, Arsalan Vessal, Helga Szabo, Anita Hernyes, Luca Zoldi, Zsofia Jokkel, Andrea Fekete, Janos Juhasz, Nora Makra, Dora Szabo, Edit Buzas, Ada
    Medicina.2023; 59(10): 1696.     CrossRef
  • Dementia Prevention in Clinical Practice
    Kellyann Niotis, Kiarra Akiyoshi, Caroline Carlton, Richard Isaacson
    Seminars in Neurology.2022; 42(05): 525.     CrossRef
  • Progressive Supranuclear Palsy in 2022: recent developments and an eye to the future
    Shane Lyons, Sean O'Dowd, Richard Walsh, Tim Lynch
    Advances in Clinical Neuroscience & Rehabilitation.2022;[Epub]     CrossRef
Original Article
The Non-Motor Symptom Profile of Progressive Supranuclear Palsy
Sudhakar Pushpa Chaithra, Shweta Prasad, Vikram Venkappayya Holla, Albert Stezin, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal
J Mov Disord. 2020;13(2):118-126.   Published online April 6, 2020
DOI: https://doi.org/10.14802/jmd.19066
  • 8,180 View
  • 258 Download
  • 18 Web of Science
  • 14 Crossref
AbstractAbstract PDF
Objective
Non-motor symptoms (NMSs) significantly contribute to increased morbidity and poor quality of life in patients with parkinsonian disorders. This study aims to explore the profile of NMSs in patients with progressive supranuclear palsy (PSP) using the validated Non-Motor Symptom Scale (NMSS).
Methods
Seventy-six patients with PSP were evaluated in this study. Motor symptoms and NMSs were evaluated using the PSP Rating Scale (PSPRS), Unified Parkinson’s Disease Rating Scale-III, Montreal Cognitive Assessment, Hamilton Depression (HAMD) and Anxiety Rating Scales, Parkinson’s Disease Sleep Scale (PDSS) and NMSS. NMS severity and prevalence were also compared between patients with PSP-Richardson syndrome (PSP-RS) and those with PSP-parkinsonism.
Results
All subjects in this cohort reported at least 2 NMSs. The most prevalent NMSs in patients with PSP were in the domains of sleep/fatigue, mood/cognition, and sexual function. The least prevalent NMSs were in the domains of cardiovascular including falls, and perceptual problems/hallucinations. Significant correlations were observed between the NMSS scores and HAM-D, PDSS, PSPRS scores and PSPRS sub-scores. The severity of NMSs was unrelated to the duration of illness. Patients with PSP-RS reported a higher severity of drooling, altered smell/taste, depression and altered interest in sex and a higher prevalence of sexual dysfunction.
Conclusion
NMSs are commonly observed in patients with PSP, and the domains of sleep, mood and sexual function are most commonly affected. These symptoms contribute significantly to disease morbidity, and clinicians should pay adequate attention to identifying and addressing these symptoms.

Citations

Citations to this article as recorded by  
  • 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
    Journal of Movement Disorders.2024; 17(2): 158.     CrossRef
  • Autonomic dysfunction in progressive supranuclear palsy
    Francesca Baschieri, Maria Vitiello, Pietro Cortelli, Giovanna Calandra-Buonaura, Francesca Morgante
    Journal of Neurology.2023; 270(1): 109.     CrossRef
  • PDQ-8: A Simplified and Effective Tool Measuring Life Quality in Progressive Supranuclear Palsy
    Xin-Yi Li, Ming-Jia Chen, Xiao-Niu Liang, Rui-Xin Yao, Bo Shen, Bin Wu, Gen Li, Yi-Min Sun, Jian-Jun Wu, Feng-Tao Liu, Yu-Jie Yang, Jian Wang
    Journal of Parkinson's Disease.2023; 13(1): 83.     CrossRef
  • Non-motor symptoms in multiple system atrophy: A comparative study with Parkinson's disease and progressive supranuclear palsy
    Wen-Zheng Hu, Ling-Xiao Cao, Jin-Hui Yin, Xue-Song Zhao, Ying-Shan Piao, Wei-Hong Gu, Jing-Hong Ma, Zhi-Rong Wan, Yue Huang
    Frontiers in Neurology.2023;[Epub]     CrossRef
  • Neurological update: the palliative care landscape for atypical parkinsonian syndromes
    Noreen O’Shea, Shane Lyons, Stephen Higgins, Sean O’Dowd
    Journal of Neurology.2023; 270(4): 2333.     CrossRef
  • Structural correlates of survival in progressive supranuclear palsy
    Duncan Street, W Richard Bevan-Jones, Maura Malpetti, P Simon Jones, Luca Passamonti, Boyd CP. Ghosh, Timothy Rittman, Ian TS. Coyle-Gilchrist, Kieren Allinson, Catherine E. Dawson, James B. Rowe
    Parkinsonism & Related Disorders.2023; 116: 105866.     CrossRef
  • Migraine and Tension-type Headache in Parkinson’s Disease and Progressive Supranuclear Palsy/Corticobasal Syndrome
    Vinayak Jatale, Ashutosh Tiwari, Mritunjai Kumar, Ravi Gupta, Niraj Kumar
    Annals of Indian Academy of Neurology.2023; 26(5): 708.     CrossRef
  • A Systematic Review of Apathy and Depression in Progressive Supranuclear Palsy
    Joshua Flavell, Peter J. Nestor
    Journal of Geriatric Psychiatry and Neurology.2022; 35(3): 280.     CrossRef
  • The Burden of Progressive Supranuclear Palsy on Patients, Caregivers, and Healthcare Systems by PSP Phenotype: A Cross-Sectional Study
    Demetris Pillas, Alexander Klein, Teresa Gasalla, Andreja Avbersek, Alexander Thompson, Jack Wright, Jennifer Mellor, Anna Scowcroft
    Frontiers in Neurology.2022;[Epub]     CrossRef
  • Fatigue in hypokinetic, hyperkinetic, and functional movement disorders
    Ilaria Antonella Di Vico, Giovanni Cirillo, Alessandro Tessitore, Mattia Siciliano, Massimo Venturelli, Cristian Falup-Pecurariu, Gioacchino Tedeschi, Francesca Morgante, Michele Tinazzi
    Parkinsonism & Related Disorders.2021; 86: 114.     CrossRef
  • Prevalence and Characteristics of Polyneuropathy in Atypical Parkinsonian Syndromes: An Explorative Study
    Rachel Rohmann, Eva Kühn, Raphael Scherbaum, Lovis Hilker, Saskia Kools, Leonard Scholz, Katharina Müller, Sophie Huckemann, Christiane Schneider-Gold, Ralf Gold, Kalliopi Pitarokoili, Lars Tönges, Eun Hae Kwon
    Brain Sciences.2021; 11(7): 879.     CrossRef
  • Understanding fatigue in progressive supranuclear palsy
    Jong Hyeon Ahn, Joomee Song, Dong Yeong Lee, Jinyoung Youn, Jin Whan Cho
    Scientific Reports.2021;[Epub]     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
  • Clinical progression of progressive supranuclear palsy: impact of trials bias and phenotype variants
    Duncan Street, Maura Malpetti, Timothy Rittman, Boyd C P Ghosh, Alexander G Murley, Ian Coyle-Gilchrist, Luca Passamonti, James B Rowe
    Brain Communications.2021;[Epub]     CrossRef
Review Article
Progressive Supranuclear Palsy with Predominant Cerebellar Ataxia
Shoichiro Ando, Masato Kanazawa, Osamu Onodera
J Mov Disord. 2020;13(1):20-26.   Published online December 19, 2019
DOI: https://doi.org/10.14802/jmd.19061
  • 10,205 View
  • 427 Download
  • 17 Web of Science
  • 18 Crossref
AbstractAbstract PDF
Progressive supranuclear palsy (PSP) is characterized by supranuclear gaze palsy, dystonic rigidity of the neck and upper trunk, frequent falls and mild cognitive impairment. Cerebellar ataxia is one of the exclusion criteria given by the National Institute of Neurological Disorders and Stroke and the Society for Progressive Supranuclear Palsy. As a result, pathologically proven PSP patients exhibiting cerebellar ataxia have often been misdiagnosed with spinocerebellar degeneration, specifically multiple system atrophy with predominant cerebellar ataxia (MSA-C). However, more recently, it has been recognized that patients with PSP can present with truncal and limb ataxia as their initial symptom and/or main manifestation. These patients can be classified as having PSP with predominant cerebellar ataxia (PSP-C), a new subtype of PSP. Since the development of this classification, patients with PSP-C have been identified primarily in Asian countries, and it has been noted that this condition is very rare in Western communities. Furthermore, the clinical features of PSP-C have been identified, enabling it to be distinguished from other subtypes of PSP and MSA-C. In this review, we describe the clinical and neuropathological features of PSP-C. The hypothesized pathophysiology of cerebellar ataxia in PSP-C is also discussed.

Citations

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  • Progressive supranuclear palsy: A case report and brief review of the literature
    Vivek Batheja, Morgan Fish, Aneri B. Balar, Jeffery P. Hogg, Dhairya A. Lakhani, Musharaf Khan
    Radiology Case Reports.2024; 19(1): 250.     CrossRef
  • Assessment of [18F]PI-2620 Tau-PET Quantification via Non-Invasive Automatized Image Derived Input Function
    Maria Meindl, Artem Zatcepin, Johannes Gnörich, Maximilian Scheifele, Mirlind Zaganjori, Mattes Groß, Simon Lindner, Rebecca Schaefer, Marcel Simmet, Sebastian Roemer, Sabrina Katzdobler, Johannes Levin, Günter Höglinger, Ann-Cathrin Bischof, Henryk Barth
    European Journal of Nuclear Medicine and Molecular Imaging.2024;[Epub]     CrossRef
  • The Role of the Cerebellum in Swallowing
    Ayodele Sasegbon, Shaheen Hamdy
    Dysphagia.2023; 38(2): 497.     CrossRef
  • Ataxias: Hereditary, Acquired, and Reversible Etiologies
    Chi-Ying R. Lin, Sheng-Han Kuo
    Seminars in Neurology.2023; 43(01): 048.     CrossRef
  • Progressive supranuclear palsy: current approach and challenges to diagnosis and treatment
    Ariane Veilleux Carpentier, Nikolaus R. McFarland
    Current Opinion in Neurology.2023; 36(4): 309.     CrossRef
  • Deciphering the saccade velocity profile of progressive supranuclear palsy: A sign of latent cerebellar/brainstem dysfunction?
    Yasuo Terao, Shin-ichi Tokushige, Satomi Inomata-Terada, Hideki Fukuda, Akihiro Yugeta, Yoshikazu Ugawa
    Clinical Neurophysiology.2022; 141: 147.     CrossRef
  • Parkinsonism and ataxia
    Giulia Franco, Giulia Lazzeri, Alessio Di Fonzo
    Journal of the Neurological Sciences.2022; 433: 120020.     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 Aspects of the Differential Diagnosis of Parkinson’s Disease and Parkinsonism
    Hae-Won Shin, Sang-Wook Hong, Young Chul Youn
    Journal of Clinical Neurology.2022; 18(3): 259.     CrossRef
  • Clinical Spectrum of Tauopathies
    Nahid Olfati, Ali Shoeibi, Irene Litvan
    Frontiers in Neurology.2022;[Epub]     CrossRef
  • Toward More Accessible Fully Automated 3D Volumetric MRI Decision Trees for the Differential Diagnosis of Multiple System Atrophy, Related Disorders, and Age-Matched Healthy Subjects
    Jisoo Kim, Geoffrey S. Young, Andrew S. Willett, Ariana T. Pitaro, Grace F. Crotty, Merlyne Mesidor, Kristie A. Jones, Camden Bay, Min Zhang, Mel B. Feany, Xiaoyin Xu, Lei Qin, Vikram Khurana
    The Cerebellum.2022; 22(6): 1098.     CrossRef
  • Progressive Supranuclear Palsy in 2022: recent developments and an eye to the future
    Shane Lyons, Sean O'Dowd, Richard Walsh, Tim Lynch
    Advances in Clinical Neuroscience & Rehabilitation.2022;[Epub]     CrossRef
  • Pearls & Oy-sters: Deep Phenotyping of Abnormal Eye Movements Advances the Detection of Gerstmann-Sträussler-Scheinker Syndrome
    Ashley M. Paul, Weiyi Mu, Ankur Butala, Kemar E. Green
    Neurology.2022; 99(21): 957.     CrossRef
  • Cerebellar ataxia in progressive supranuclear palsy: a clinico-pathological case report
    David Crosiers, Anne Sieben, Sarah Ceyssens, Paul M. Parizel, Jonathan Baets
    Acta Neurologica Belgica.2021; 121(2): 599.     CrossRef
  • Progressive supranuclear palsy
    N.V. Fedorova, E.V. Bril, T.K. Kulua, A.D. Mikhaylova
    Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova.2021; 121(5): 111.     CrossRef
  • Case 20-2021: A 69-Year-Old Man with Ataxia
    Richard C. Cabot, Eric S. Rosenberg, David M. Dudzinski, Meridale V. Baggett, Kathy M. Tran, Dennis C. Sgroi, Jo-Anne O. Shepard, Emily K. McDonald, Tara Corpuz, Vikram Khurana, Claudio M. de Gusmao, McKinley Glover, Jeffrey Helgager
    New England Journal of Medicine.2021; 385(2): 165.     CrossRef
  • Evolving concepts in progressive supranuclear palsy and other 4-repeat tauopathies
    Maria Stamelou, Gesine Respondek, Nikolaos Giagkou, Jennifer L. Whitwell, Gabor G. Kovacs, Günter U. Höglinger
    Nature Reviews Neurology.2021; 17(10): 601.     CrossRef
  • Tauopathy and Movement Disorders—Unveiling the Chameleons and Mimics
    Jacky Ganguly, Mandar Jog
    Frontiers in Neurology.2020;[Epub]     CrossRef
Original Articles
Clinical Milestones Preceding the Diagnosis of Multiple System Atrophy and Progressive Supranuclear Palsy: A Retrospective Cohort Study
Louise Wiblin, Rory Durcan, Brook Galna, Mark Lee, David Burn
J Mov Disord. 2019;12(3):177-183.   Published online August 9, 2019
DOI: https://doi.org/10.14802/jmd.19015
  • 7,724 View
  • 217 Download
  • 4 Web of Science
  • 6 Crossref
AbstractAbstract PDF
Objective
Multiple System Atrophy (MSA) and progressive supranuclear palsy (PSP) are rapidly progressive forms of degenerative Parkinsonism. The difficulties of diagnosing MSA and PSP in their early stages may lead to delayed referral to appropriate specialists and distress to patients, as well as delaying symptomatic treatment and participation in clinical trials. This work aimed to describe the symptoms that patients with MSA and PSP developed and plot their emergence relative to final diagnosis using a median onset in months.
Methods
Forty-seven patients from the United Kingdom with MSA or PSP diagnosed by a movement disorder specialist were interviewed with carers or relatives to establish milestone onset. This was corroborated using clinical notes and letters.
Results
In the MSA cohort (n = 23), autonomic symptoms (median 5.5 months before diagnosis) and falls (median 1 month before diagnosis) were the two clinical milestones which occurred before diagnosis. In the PSP cohort (n = 24), falling was the only milestone which occurred before diagnosis (median of 18.5 months).
Conclusion
This Study Shows That Psp Patients Experience Falling More Than A Year And A Half An Average Before Receiving A Diagnosis And Although Msa Patients Also Tended To Fall, This Was Much Closer To The Time Of Diagnosis. Further Work With Larger Cohorts May Illustrate Whether These Preliminary Findings Can Be Generalised To Guide Diagnosis And Management.

Citations

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  • Progressive Supranuclear palsy (PSP) disease progression, management, and healthcare resource utilization: a retrospective observational study in the US and Canada
    Ella Nysetvold, Lauren N. Lopez, Ashley N. Cogell, Henrik Fryk, Nelson D. Pace, Sara Snell Taylor, Joyce Rhoden, Caitlin A. Nichols, Demetris Pillas, Alexander Klein, Teresa Gasalla, Anna Scowcroft
    Orphanet Journal of Rare Diseases.2024;[Epub]     CrossRef
  • Clinical milestones as triggers for palliative care intervention in progressive Supranuclear palsy and multiple system atrophy
    Robin Bessemer, Alla Iansavichene, Mary E. Jenkins, Elizabeth Finger, Teneille E. Gofton
    Journal of the Neurological Sciences.2023; 448: 120614.     CrossRef
  • Toward More Accessible Fully Automated 3D Volumetric MRI Decision Trees for the Differential Diagnosis of Multiple System Atrophy, Related Disorders, and Age-Matched Healthy Subjects
    Jisoo Kim, Geoffrey S. Young, Andrew S. Willett, Ariana T. Pitaro, Grace F. Crotty, Merlyne Mesidor, Kristie A. Jones, Camden Bay, Min Zhang, Mel B. Feany, Xiaoyin Xu, Lei Qin, Vikram Khurana
    The Cerebellum.2022; 22(6): 1098.     CrossRef
  • Disease course and treatment patterns in progressive supranuclear palsy: A real-world study
    John C. Morgan, Xiaolan Ye, Jennifer A. Mellor, Keisha J. Golden, Jorge Zamudio, Louis A. Chiodo, Yanjun Bao, Tao Xie
    Journal of the Neurological Sciences.2021; 421: 117293.     CrossRef
  • Patient and care partner views on exercise and structured physical activity for people with Progressive Supranuclear Palsy
    Susan C. Slade, Christopher Bruce, Jennifer L. McGinley, Bastiaan R. Bloem, Meg E. Morris, John Duda
    PLOS ONE.2020; 15(6): e0234265.     CrossRef
  • Effect of cold oral stimulation on orthostatic hypotension in multiple system atrophy: a case study
    Hironobu Uzawa, Shinta Takeuchi, Yusuke Nishida
    Journal of Physical Therapy Science.2020; 32(7): 473.     CrossRef
Increased Signal in the Superior Cerebellar Peduncle of Patients with Progressive Supranuclear Palsy
Hiroshi Kataoka, Yukako Nishimori, Takao Kiriyama, Hitoki Nanaura, Tesseki Izumi, Nobuyuki Eura, Naoki Iwasa, Kazuma Sugie
J Mov Disord. 2019;12(3):166-171.   Published online August 9, 2019
DOI: https://doi.org/10.14802/jmd.19002
  • 8,644 View
  • 220 Download
  • 2 Web of Science
  • 2 Crossref
AbstractAbstract PDF
Objective
The provisional diagnosis of progressive supranuclear palsy (PSP) depends on a combination of typical clinical features and specific MRI findings, such as atrophy of the tegmentum in the midbrain. Atrophy of the superior cerebellar peduncle (SCP) distinguishes PSP from other types of parkinsonism. Histological factors affect the conventional fluid-attenuated inversion recovery (FLAIR) signals, such as the extent of neuronal loss and gliosis.
Methods
We investigated patients with PSP to verify the percentage of patients with various PSP phenotypes presenting a high signal intensity in the SCP. Three interviewers, who were not informed about the clinical data, visually inspected the presence or absence of a high signal intensity in the SCP on the FLAIR images. We measured the pixel value in the SCP of each patient. Clinical characteristics were evaluated using the Mann-Whitney test, followed by the χ2 test.
Results
Ten of the 51 patients with PSP showed a high signal intensity in the SCP on FLAIR MRI. Higher pixel values were observed within the SCP of patients with a high signal intensity in the SCP than in patients without a high signal intensity (p < 0.001). The sensitivity and specificity of the high signal intensity in the SCP of patients with PSP was 19.6% and 100%, respectively. This finding was more frequently observed in patients with PSP with Richardson’s syndrome (PSP-RS) (25.7%) than other phenotypes (6.2%).
Conclusion
The high signal intensity in the SCP on FLAIR MRI might be an effective diagnostic tool for PSP-RS.

Citations

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  • Diffusion tractography of superior cerebellar peduncle and dentatorubrothalamic tracts in two autopsy confirmed progressive supranuclear palsy variants: Richardson syndrome and the speech-language variant
    Rodolfo G. Gatto, Peter R. Martin, Farwa Ali, Heather M. Clark, Joseph R. Duffy, Rene L. Utianski, Hugo Botha, Mary M. Machulda, Dennis W. Dickson, Keith A. Josephs, Jennifer L. Whitwell
    NeuroImage: Clinical.2022; 35: 103030.     CrossRef
  • The Role of Magnetic Resonance Imaging for the Diagnosis of Atypical Parkinsonism
    Lydia Chougar, Nadya Pyatigorskaya, Bertrand Degos, David Grabli, Stéphane Lehéricy
    Frontiers in Neurology.2020;[Epub]     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
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  • 7 Web of Science
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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

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  • 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
Case Reports
‘Hummingbird’ Sign in a Patient with Guam Parkinsonism-Dementia Complex
Tianrong Yeo, Louis CS Tan
J Mov Disord. 2017;10(3):145-148.   Published online August 8, 2017
DOI: https://doi.org/10.14802/jmd.17025
  • 6,936 View
  • 137 Download
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AbstractAbstract PDFSupplementary Material
We present a case of a 71-year-old male Chamorro patient from Guam who presented with progressive supranuclear palsy (PSP)-Richardson’s syndrome. Considering his strong family history of parkinsonism and a PSP phenotype, he was clinically diagnosed with Guam parkinsonism-dementia complex (PDC). Magnetic resonance imaging (MRI) of the brain revealed prominent midbrain atrophy with preserved pontine volume, forming the ‘hummingbird’ sign, which has not been described before in Guam PDC. Molecular analysis of the chromosome 9 open reading frame 72 gene (C9orf72) showed only 6 GGGGCC repeats. We discuss the clinico-pathological similarities and differences between PSP and Guam PDC, and highlight the topography of neuropathological changes seen in Guam PDC to explain the appearance of the ‘hummingbird’ sign on MRI.

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  • Discriminative pattern of reduced cerebral blood flow in Parkinson’s disease and Parkinsonism-Plus syndrome: an ASL-MRI study
    Lina Cheng, Xiaoyan Wu, Ruomi Guo, Yuzhou Wang, Wensheng Wang, Peng He, Hanbo Lin, Jun Shen
    BMC Medical Imaging.2020;[Epub]     CrossRef
  • Tauopathy and Movement Disorders—Unveiling the Chameleons and Mimics
    Jacky Ganguly, Mandar Jog
    Frontiers in Neurology.2020;[Epub]     CrossRef
Progressive Supranuclear Gaze Palsy with Predominant Cerebellar Ataxia: A Case Series with Videos
Zheyu Xu, Tchoyoson C.C. Lim, Wing Lok Au, Louis C.S. Tan
J Mov Disord. 2017;10(2):87-91.   Published online April 18, 2017
DOI: https://doi.org/10.14802/jmd.16059
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  • 288 Download
  • 5 Web of Science
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AbstractAbstract PDFSupplementary Material
Progressive supranuclear palsy (PSP) with predominant cerebellar ataxia (PSP-C) is a rare phenotype of PSP. The clinical and radiological features of this disorder remain poorly characterized. Through a retrospective case series, we aim to characterize the clinical and radiological features of PSP-C. Four patients with PSP-C were identified: patients who presented with prominent cerebellar dysfunction that disappeared with the progression of the disease. Supranuclear gaze palsy occurred at a mean of 2.0 ± 2.3 years after the onset of ataxia. Mild cerebellar volume loss and midbrain atrophy were detected on brain imaging, which are supportive of a diagnosis of PSP. Videos are presented illustrating the co-existence of cerebellar signs and supranuclear gaze palsy and the disappearance of cerebellar signs with disease progression. Better recognition and the development of validated diagnostic criteria would aid in the antemortem recognition of this rare condition.

Citations

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  • Central nystagmus in progressive supranuclear palsy: A neglected clinical feature?
    Maja Klarendic, Manja Hribar, Nina Bozanic Urbancic, Nina Zupancic, Milica G. Kramberger, Maja Trost, Saba Battelino, Diego Kaski, Maja Kojovic
    Parkinsonism & Related Disorders.2021; 84: 15.     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
  • Progressive Supranuclear Palsy with Predominant Cerebellar Ataxia
    Shoichiro Ando, Masato Kanazawa, Osamu Onodera
    Journal of Movement Disorders.2020; 13(1): 20.     CrossRef
Review Articles
Clinical Approach to Progressive Supranuclear Palsy
Helen Ling
J Mov Disord. 2016;9(1):3-13.   Published online January 25, 2016
DOI: https://doi.org/10.14802/jmd.15060
  • 35,222 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

Citations to this article as recorded by  
  • Mechanisms linking cerebrovascular dysfunction and tauopathy: Adding a layer of epiregulatory complexity
    Yoon A. Kim, Marian Mellen, Caghan Kizil, Ismael Santa‐Maria
    British Journal of Pharmacology.2024; 181(6): 879.     CrossRef
  • Concomitant Medications for Progressive Supranuclear Palsy
    Jay M. Iyer, Douglas Gunzler, Anthony E. Lang, Lawrence I. Golbe, Alexander Pantelyat, Adam L. Boxer, Anne-Marie Wills
    JAMA Neurology.2024; 81(3): 295.     CrossRef
  • Existing statistical measures and techniques in detecting and evaluating progressive supranuclear palsy, its phenotypes by using MRI modalities: A Review
    Nirmal Adam Sait, J Kathirvelan
    Materials Today: Proceedings.2023; 80: 2000.     CrossRef
  • The role of magnetic resonance imaging in the diff erential diagnosis of Parkinson’s disease
    A. A. Tappakhov, T. E. Popova
    Russian neurological journal.2023; 28(1): 5.     CrossRef
  • PSP-Richardson syndrome mimics: An overview and pragmatic approach
    J. Necpál, M. Borsek, B. Jeleňová
    Revue Neurologique.2023;[Epub]     CrossRef
  • Clinical features of progressive supranuclear palsy
    Yafei Wen, Qijie Yang, Bin Jiao, Weiwei Zhang, Jingyi Lin, Yuan Zhu, Qian Xu, Hui Zhou, Ling Weng, Xinxin Liao, Yafang Zhou, Junling Wang, Jifeng Guo, Xinxiang Yan, Hong Jiang, Beisha Tang, Lu Shen
    Frontiers in Aging Neuroscience.2023;[Epub]     CrossRef
  • Midbrain area and the hummingbird sign from brain MRI in progressive supranuclear palsy and idiopathic normal pressure hydrocephalus
    Johan Virhammar, Harald Blohmé, Dag Nyholm, Charalampos Georgiopoulos, David Fällmar
    Journal of Neuroimaging.2022; 32(1): 90.     CrossRef
  • Cognitive, Psychiatric, and Motor Symptoms–Based Algorithmic Approach to Differentiate Among Various Types of Dementia Syndromes
    Rehab Magdy, Mona Hussein
    Journal of Nervous & Mental Disease.2022; 210(2): 129.     CrossRef
  • Idiopathic normal pressure hydrocephalus-like MRI features in patients with progressive supranuclear palsy: a comparative case-control study
    Halil Onder, Bilge Kocer, Selcuk Comoglu
    Neurological Research.2022; 44(9): 807.     CrossRef
  • Targeting alpha-synuclein or tau for treating neurodegenerative movement disorders
    M. Lopez-Cuina, W.G. Meissner
    Revue Neurologique.2022; 178(5): 460.     CrossRef
  • Clinical Aspects of the Differential Diagnosis of Parkinson’s Disease and Parkinsonism
    Hae-Won Shin, Sang-Wook Hong, Young Chul Youn
    Journal of Clinical Neurology.2022; 18(3): 259.     CrossRef
  • Dopamine transporter imaging in progressive supranuclear palsy: Severe but nonspecific to subtypes
    Qi‐Si Chen, Xin‐Yi Li, Ling Li, Jia‐Ying Lu, Yi‐Min Sun, Feng‐Tao Liu, Chuan‐Tao Zuo, Jian Wang
    Acta Neurologica Scandinavica.2022; 146(3): 237.     CrossRef
  • CSF tau microtubule-binding region identifies pathological changes in primary tauopathies
    Kanta Horie, Nicolas R. Barthélemy, Salvatore Spina, Lawren VandeVrede, Yingxin He, Ross W. Paterson, Brenton A. Wright, Gregory S. Day, Albert A. Davis, Celeste M. Karch, William W. Seeley, Richard J. Perrin, Rama K. Koppisetti, Faris Shaikh, Argentina L
    Nature Medicine.2022; 28(12): 2547.     CrossRef
  • Role of Multivoxel MR Spectroscopy Progressive Supranuclear Palsy – A Preliminary Study
    Sandhya Mangalore, Manoj Kumar, Pramod Pal, Jitender Saini, Shaik Pasha, Ravi Yadav
    Neurology India.2022; 70(6): 2388.     CrossRef
  • Genetics of Progressive Supranuclear Palsy: A Review
    Yafei Wen, Yafang Zhou, Bin Jiao, Lu Shen
    Journal of Parkinson's Disease.2021; 11(1): 93.     CrossRef
  • Disease course and treatment patterns in progressive supranuclear palsy: A real-world study
    John C. Morgan, Xiaolan Ye, Jennifer A. Mellor, Keisha J. Golden, Jorge Zamudio, Louis A. Chiodo, Yanjun Bao, Tao Xie
    Journal of the Neurological Sciences.2021; 421: 117293.     CrossRef
  • Central nystagmus in progressive supranuclear palsy: A neglected clinical feature?
    Maja Klarendic, Manja Hribar, Nina Bozanic Urbancic, Nina Zupancic, Milica G. Kramberger, Maja Trost, Saba Battelino, Diego Kaski, Maja Kojovic
    Parkinsonism & Related Disorders.2021; 84: 15.     CrossRef
  • Safety and efficacy of tilavonemab in progressive supranuclear palsy: a phase 2, randomised, placebo-controlled trial
    Günter U Höglinger, Irene Litvan, Nuno Mendonca, Deli Wang, Hui Zheng, Beatrice Rendenbach-Mueller, Hoi-Kei Lon, Ziyi Jin, Nahome Fisseha, Kumar Budur, Michael Gold, Davis Ryman, Hana Florian, Anwar Ahmed, Ikuko Aiba, Alberto Albanese, Kelly Bertram, Yvet
    The Lancet Neurology.2021; 20(3): 182.     CrossRef
  • A Study on the Essential and Parkinson’s Arm Tremor Classification
    Vasileios Skaramagkas, George Andrikopoulos, Zinovia Kefalopoulou, Panagiotis Polychronopoulos
    Signals.2021; 2(2): 201.     CrossRef
  • Progressive Supranuclear Palsy: Improvement in Cognitive-Behavioral Disturbances and Motor-Function Disabilities Following Treatment With Antidepressants and Cholinesterase Inhibitors
    Michelle Oyeka, Terngu Ibilah, Jacob Israel, Jose Gavito-Higuera, Ricardo Salazar
    Cureus.2021;[Epub]     CrossRef
  • Progressive supranuclear palsy
    N.V. Fedorova, E.V. Bril, T.K. Kulua, A.D. Mikhaylova
    Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova.2021; 121(5): 111.     CrossRef
  • Best Practices in the Clinical Management of Progressive Supranuclear Palsy and Corticobasal Syndrome: A Consensus Statement of the CurePSP Centers of Care
    Brent Bluett, Alexander Y. Pantelyat, Irene Litvan, Farwa Ali, Diana Apetauerova, Danny Bega, Lisa Bloom, James Bower, Adam L. Boxer, Marian L. Dale, Rohit Dhall, Antoine Duquette, Hubert H. Fernandez, Jori E. Fleisher, Murray Grossman, Michael Howell, Di
    Frontiers in Neurology.2021;[Epub]     CrossRef
  • The Genetic Landscape of Parkinsonism-Related Dystonias and Atypical Parkinsonism-Related Syndromes
    Monica Diez-Fairen, Pilar Alvarez Jerez, Joos Berghausen, Sara Bandres-Ciga
    International Journal of Molecular Sciences.2021; 22(15): 8100.     CrossRef
  • MAPT R406W increases tau T217 phosphorylation in absence of amyloid pathology
    Chihiro Sato, Nipun Mallipeddi, Nupur Ghoshal, Brenton A. Wright, Gregory S. Day, Albert A. Davis, Albert H. Kim, Gregory J. Zipfel, Randall J. Bateman, Audrey Gabelle, Nicolas R. Barthélemy
    Annals of Clinical and Translational Neurology.2021; 8(9): 1817.     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
  • Estimation and discussion of prognosis in neurologic practice. Communication issues with patient with neurological disease
    E. V. Bril, A. V. Khasina, F. A. Abbasov, O. S. Zimnyakova, N. V. Fedorova
    Medical alphabet.2021; (22): 55.     CrossRef
  • The Progressive Supranuclear Palsy: Past and Present Aspects
    Theodore P. Parthimos, Kleopatra H. Schulpis
    Clinical Gerontologist.2020; 43(2): 155.     CrossRef
  • Machine Learning Techniques to Identify Dementia
    Nivedita Manohar Mathkunti, Shanta Rangaswamy
    SN Computer Science.2020;[Epub]     CrossRef
  • My dad and progressive supranuclear palsy (PSP)
    Heather Angus-Leppan
    Practical Neurology.2020; 20(3): 263.     CrossRef
  • Tauopathy and Movement Disorders—Unveiling the Chameleons and Mimics
    Jacky Ganguly, Mandar Jog
    Frontiers in Neurology.2020;[Epub]     CrossRef
  • A Home-Based, Music-Cued Movement Program Is Feasible and May Improve Gait in Progressive Supranuclear Palsy
    Joanne E. Wittwer, Margaret Winbolt, Meg E. Morris
    Frontiers in Neurology.2019;[Epub]     CrossRef
  • Association of autonomic symptoms with disease progression and survival in progressive supranuclear palsy
    Marcos C B Oliveira, Helen Ling, Andrew J Lees, Janice L Holton, Eduardo De Pablo-Fernandez, Thomas T Warner
    Journal of Neurology, Neurosurgery & Psychiatry.2019; 90(5): 555.     CrossRef
  • Revisiting the diagnostic value of Evans’ index: lessons from an unusual case of normal pressure hydrocephalus with Evans’ index less than 0.3
    Jung E. Park, Hyunjin Ju, Kayeong Im, Kyum-Yil Kwon
    Neurological Sciences.2019; 40(12): 2637.     CrossRef
  • Progressive supranuclear palsy as differential diagnosis of Parkinson's disease in the elderly
    Ricardo Fernández-Ferreira, Raúl Anwar García-Santos, Mayela Rodríguez-Violante, Coral López-Martínez, Ivonne Karina Becerra-Laparra, María Eugenia Torres-Pérez
    Revista Española de Geriatría y Gerontología.2019; 54(5): 251.     CrossRef
  • Neuroinflammation as a Common Feature of Neurodegenerative Disorders
    Leonardo Guzman-Martinez, Ricardo B. Maccioni, Víctor Andrade, Leonardo Patricio Navarrete, María Gabriela Pastor, Nicolas Ramos-Escobar
    Frontiers in Pharmacology.2019;[Epub]     CrossRef
  • On the journey to uncover the causes of selective cellular and regional vulnerability in neurodegeneration
    Zane Jaunmuktane, Sebastian Brandner
    Acta Neuropathologica.2019; 138(5): 677.     CrossRef
  • Clinical Milestones Preceding the Diagnosis of Multiple System Atrophy and Progressive Supranuclear Palsy: A Retrospective Cohort Study
    Louise Wiblin, Rory Durcan, Brook Galna, Mark Lee, David Burn
    Journal of Movement Disorders.2019; 12(3): 177.     CrossRef
  • Prediction of the Clinical Severity of Progressive Supranuclear Palsy by Diffusion Tensor Imaging
    Yao-Liang Chen, Xiang-An Zhao, Shu-Hang Ng, Chin-Song Lu, Yu-Chun Lin, Jur-Shan Cheng, Chih-Chien Tsai, Jiun-Jie Wang
    Journal of Clinical Medicine.2019; 9(1): 40.     CrossRef
  • Tauopathy with hippocampal 4‐repeat tau immunoreactive spherical inclusions: a report of three cases
    Gabor G. Kovacs, Linda K. Kwong, Murray Grossman, David J. Irwin, Edward B. Lee, John L. Robinson, Eunran Suh, Vivianna M. Van Deerlin, Virginia M. Lee, John Q. Trojanowski
    Brain Pathology.2018; 28(2): 274.     CrossRef
  • A case of spinal anesthesia in a patient with progressive supranuclear palsy
    Momoka Tonan, Moritoki Egi, Nana Furushima, Satoshi Mizobuchi
    JA Clinical Reports.2018;[Epub]     CrossRef
  • Is it Useful to Classify PSP and CBD as Different Disorders? Yes
    Helen Ling, Antonella Macerollo
    Movement Disorders Clinical Practice.2018; 5(2): 145.     CrossRef
  • Difficulties in the diagnosis of four repeats (4R) tauopathic parkinsonian syndromes
    Piotr Alster, Ewa Krzyżanowska, Dariusz Koziorowski, Stanisław Szlufik, Dorota Różański, Joanna Noskowska, Justyna Mianowicz, Adrian Michno, Leszek Królicki, Andrzej Friedman
    Neurologia i Neurochirurgia Polska.2018; 52(4): 459.     CrossRef
  • Neuro-ophthalmology of movement disorders
    Olga Waln, Joseph Jankovic
    Expert Review of Ophthalmology.2018; 13(5): 283.     CrossRef
  • Role of Neuroimaging on Differentiation of Parkinson’s Disease and Its Related Diseases
    Toshihide Ogawa, Shinya Fujii, Keita Kuya, Shin-ichiro Kitao, Yuki Shinohara, Mana Ishibashi, Yoshio Tanabe
    Yonago Acta Medica.2018; 61(3): 145.     CrossRef
  • Gait disorders in adults and the elderly
    Walter Pirker, Regina Katzenschlager
    Wiener klinische Wochenschrift.2017; 129(3-4): 81.     CrossRef
  • Transcranial Magnetic Stimulation for the Assessment of Neurodegenerative Disease
    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
DOI: https://doi.org/10.14802/jmd.15033
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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.

Citations

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  • Genetic Architecture of Primary Tauopathies
    Daniel Gallo, Agustín Ruiz, Pascual Sánchez-Juan
    Neuroscience.2023; 518: 27.     CrossRef
  • Direct and Indirect Effects of Filamin A on Tau Pathology in Neuronal Cells
    Stéphanie Levert, Julie Pilliod, Étienne Aumont, Sandrine Armanville, Cyntia Tremblay, Frédéric Calon, Nicole Leclerc
    Molecular Neurobiology.2023; 60(2): 1021.     CrossRef
  • Identification of phosphorylated tau protein interactors in progressive supranuclear palsy (PSP) reveals networks involved in protein degradation, stress response, cytoskeletal dynamics, metabolic processes, and neurotransmission
    Rowan A. W. Radford, Stephanie L. Rayner, Paulina Szwaja, Marco Morsch, Flora Cheng, Tianyi Zhu, Jocelyn Widagdo, Victor Anggono, Dean L. Pountney, Roger Chung, Albert Lee
    Journal of Neurochemistry.2023; 165(4): 563.     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
  • Characterisation of the Function of a SINE-VNTR-Alu Retrotransposon to Modulate Isoform Expression at the MAPT Locus
    Alexander Fröhlich, Abigail L. Pfaff, Vivien J. Bubb, Sulev Koks, John P. Quinn
    Frontiers in Molecular Neuroscience.2022;[Epub]     CrossRef
  • Case of a Man with Hemichorea and Behavioral Changes: “A Red Herring”
    Galit Kleiner, Stephen A. Ryan, Juan Bilbao, Julia Keith, Ekaterina Rogaeva, Sandra E. Black, Anthony E. Lang, Mario Masellis
    Movement Disorders Clinical Practice.2022; 9(4): 501.     CrossRef
  • MAPT gene mutation in familiar progressive supranuclear palsy, a case report
    M. Rodríguez, H. Kreinter, N. Zapa, O. Oliveros, C. Jiménez
    Neurology Perspectives.2022; 2(3): 184.     CrossRef
  • Investigational therapeutics for the treatment of progressive supranuclear palsy
    David G Coughlin, Irene Litvan
    Expert Opinion on Investigational Drugs.2022; 31(8): 813.     CrossRef
  • Mass spectrometry‐based proteomics analysis of human globus pallidus from progressive supranuclear palsy patients discovers multiple disease pathways
    Yura Jang, Thujitha Thuraisamy, Javier Redding‐Ochoa, Olga Pletnikova, Juan C. Troncoso, Zhen Zhang, Liana S. Rosenthal, Ted M. Dawson, Alexander Y. Pantelyat, Chan Hyun Na
    Clinical and Translational Medicine.2022;[Epub]     CrossRef
  • Reference SVA insertion polymorphisms are associated with Parkinson’s Disease progression and differential gene expression
    Abigail L. Pfaff, Vivien J. Bubb, John P. Quinn, Sulev Koks
    npj Parkinson's Disease.2021;[Epub]     CrossRef
  • Cellular and pathological heterogeneity of primary tauopathies
    Dah-eun Chloe Chung, Shanu Roemer, Leonard Petrucelli, Dennis W. Dickson
    Molecular Neurodegeneration.2021;[Epub]     CrossRef
  • Tau and MAPT genetics in tauopathies and synucleinopathies
    Etienne Leveille, Owen A. Ross, Ziv Gan-Or
    Parkinsonism & Related Disorders.2021; 90: 142.     CrossRef
  • Optimizing intracellular antibodies (intrabodies/nanobodies) to treat neurodegenerative disorders
    Anne Messer, David C. Butler
    Neurobiology of Disease.2020; 134: 104619.     CrossRef
  • Heavy metals contaminating the environment of a progressive supranuclear palsy cluster induce tau accumulation and cell death in cultured neurons
    Carolina Alquezar, Jessica B. Felix, Elizabeth McCandlish, Brian T. Buckley, Dominique Caparros-Lefebvre, Celeste M. Karch, Lawrence I. Golbe, Aimee W. Kao
    Scientific Reports.2020;[Epub]     CrossRef
  • LRP10 variants in progressive supranuclear palsy
    Leonie J.M. Vergouw, Shamiram Melhem, Laura Donker Kaat, Wang Z. Chiu, Demy J.S. Kuipers, Guido Breedveld, Agnita J.W. Boon, Li-San Wang, Adam C. Naj, Elizabeth Mlynarksi, Laura Cantwell, Marialuisa Quadri, Owen A. Ross, Dennis W. Dickson, Gerard D. Schel
    Neurobiology of Aging.2020;[Epub]     CrossRef
  • Neuro-ophthalmology in the Geriatric Eye
    Subhan Tabba, Yi-Hsien Yeh, Ashwini Kini, Bayan Al Othman, Andrew G Lee
    US Ophthalmic Review.2020; 13(1): 30.     CrossRef
  • Genetic Risk Factors for Essential Tremor: A Review
    Vasileios Siokas, Athina-Maria Aloizou, Zisis Tsouris, Ioannis Liampas, Paraskevi Aslanidou, Metaxia Dastamani, Alexandros G. Brotis, Dimitrios P. Bogdanos, Georgios M. Hadjigeorgiou, Efthimios Dardiotis
    Tremor and Other Hyperkinetic Movements.2020; 10: 4.     CrossRef
  • PSP-FTD Complex: A Possible Variant of PSP
    Sunil Pradhan, Ruchika Tandon
    American Journal of Alzheimer's Disease & Other Dementiasr.2020; 35: 153331752092238.     CrossRef
  • Microglial Activation and Inflammation as a Factor in the Pathogenesis of Progressive Supranuclear Palsy (PSP)
    Piotr Alster, Natalia Madetko, Dariusz Koziorowski, Andrzej Friedman
    Frontiers in Neuroscience.2020;[Epub]     CrossRef
  • Tau at the interface between neurodegeneration and neuroinflammation
    Alessandro Didonna
    Genes & Immunity.2020; 21(5): 288.     CrossRef
  • Efficiency of Transcranial Magnetic Stimulation in Progressive Supranuclear Palsy: Estimation Using Goniometry and Dinamometry
    K. A. Major, Z. Zs. Major, R. Craciunas, G. Carbone, C. Vaida, D. L. Pîslă
    Neurophysiology.2019; 51(1): 57.     CrossRef
  • Four-repeat tauopathies
    Thomas W. Rösler, Amir Tayaranian Marvian, Matthias Brendel, Niko-Petteri Nykänen, Matthias Höllerhage, Sigrid C. Schwarz, Franziska Hopfner, Thomas Koeglsperger, Gesine Respondek, Kerstin Schweyer, Johannes Levin, Victor L. Villemagne, Henryk Barthel, Os
    Progress in Neurobiology.2019; 180: 101644.     CrossRef
  • One decade ago, one decade ahead in progressive supranuclear palsy
    Maria Stamelou, Nikolaos Giagkou, Günter U Höglinger
    Movement Disorders.2019; 34(9): 1284.     CrossRef
  • The genetic and clinico‐pathological profile of early‐onset progressive supranuclear palsy
    Edwin Jabbari, John Woodside, Manuela M.X. Tan, Nicola Pavese, Oliver Bandmann, Boyd C.P. Ghosh, Luke A. Massey, Erica Capps, Tom T. Warner, Andrew J. Lees, Tamas Revesz, Janice L. Holton, Nigel M. Williams, Donald G. Grosset, Huw R. Morris
    Movement Disorders.2019; 34(9): 1307.     CrossRef
  • Tau-Induced Pathology in Epilepsy and Dementia: Notions from Patients and Animal Models
    Marina Sánchez, Ana García-Cabrero, Gentzane Sánchez-Elexpuru, Daniel Burgos, José Serratosa
    International Journal of Molecular Sciences.2018; 19(4): 1092.     CrossRef
  • Replication of progressive supranuclear palsy genome-wide association study identifies SLCO1A2 and DUSP10 as new susceptibility loci
    Monica Y. Sanchez-Contreras, Naomi Kouri, Casey N. Cook, Daniel J. Serie, Michael G. Heckman, NiCole A. Finch, Richard J. Caselli, Ryan J. Uitti, Zbigniew K. Wszolek, Neill Graff-Radford, Leonard Petrucelli, Li-San Wang, Gerard D. Schellenberg, Dennis W.
    Molecular Neurodegeneration.2018;[Epub]     CrossRef
  • Improving Mouse Models for Dementia. Are All the Effects in Tau Mouse Models Due to Overexpression?
    Zelah Joel, Pablo Izquierdo, Dervis A. Salih, Jill C. Richardson, Damian M. Cummings, Frances A. Edwards
    Cold Spring Harbor Symposia on Quantitative Biology.2018; 83: 151.     CrossRef
  • Signature of an aggregation-prone conformation of tau
    Neil A. Eschmann, Elka R. Georgieva, Pritam Ganguly, Peter P. Borbat, Maxime D. Rappaport, Yasar Akdogan, Jack H. Freed, Joan-Emma Shea, Songi Han
    Scientific Reports.2017;[Epub]     CrossRef
  • Chronic traumatic encephalopathy-integration of canonical traumatic brain injury secondary injury mechanisms with tau pathology
    Jacqueline R. Kulbe, Edward D. Hall
    Progress in Neurobiology.2017; 158: 15.     CrossRef
  • MAPT mutation associated with frontotemporal dementia and parkinsonism (FTDP-17)
    Robert Haussmann, Marek Wysocki, Moritz D. Brandt, Andreas Hermann, Markus Donix
    International Psychogeriatrics.2017; 29(5): 869.     CrossRef
  • Progressieve supranucleaire parese
    Peter van Domburg
    Neuropraxis.2016; 20(2): 68.     CrossRef
  • Gene expression, methylation and neuropathology correlations at progressive supranuclear palsy risk loci
    Mariet Allen, Jeremy D. Burgess, Travis Ballard, Daniel Serie, Xue Wang, Curtis S. Younkin, Zhifu Sun, Naomi Kouri, Saurabh Baheti, Chen Wang, Minerva M. Carrasquillo, Thuy Nguyen, Sarah Lincoln, Kimberly Malphrus, Melissa Murray, Todd E. Golde, Nathan D.
    Acta Neuropathologica.2016; 132(2): 197.     CrossRef
  • Current status of biomarker research in neurology
    Jiri Polivka, Jiri Polivka, Kristyna Krakorova, Marek Peterka, Ondrej Topolcan
    EPMA Journal.2016;[Epub]     CrossRef
  • Genetic and Transcriptomic Profiles of Inflammation in Neurodegenerative Diseases: Alzheimer, Parkinson, Creutzfeldt-Jakob and Tauopathies
    Irene López González, Paula Garcia-Esparcia, Franc Llorens, Isidre Ferrer
    International Journal of Molecular Sciences.2016; 17(2): 206.     CrossRef
  • Genetic Disorders with Tau Pathology: A Review of the Literature and Report of Two Patients with Tauopathy and Positive Family Histories
    Pawel Tacik, Monica Sanchez-Contreras, Rosa Rademakers, Dennis W. Dickson, Zbigniew K. Wszolek
    Neurodegenerative Diseases.2016; 16(1-2): 12.     CrossRef
Original Article
Clinical Features and Disability Milestones in Multiple System Atrophy and Progressive Supranuclear Palsy
Sang-Wook Lee, Seong-Beom Koh
J Mov Disord. 2012;5(2):42-47.
DOI: https://doi.org/10.14802/jmd.12010
  • 23,955 View
  • 136 Download
  • 14 Crossref
AbstractAbstract PDF

Multiple system atrophy (MSA) and progressive supranuclear palsy (PSP) are an adult-onset progressive neurodegenerative disorder that are known to display diverse clinical features and disease progression. We aim to characterize the clinical features and disease progression in patients with MSA and PSP by using a number of relevant disability milestones in Koreans. Forty-one patients with MSA and 14 patients with PSP had been enrolled. The mean age at onset of MSA-C, MSA-P and PSP was 56.7 ± 7.8, 62.5 ± 8.0, 68.9 ± 6.1 years respectively. The most commonly reported symptom at disease onset is disequilibrium/dizziness in MSA-C, tremor in MSA-P and frequent falling in PSP. The mean duration of reaching milestones after disease onset in MSA-C were as followings: 20.8 (urinary incontinence), 22.9 (frequent falling), 27.8 (wheelchair bound), 31.8 (dysarthria) and 35.8 months (diagnosis). The mean duration of reaching milestones after disease onset were 22.0 (urinary incontinence), 32.6 (frequent falling and diagnosis), 41.2 (dysarthria), 61.4 months (wheelchair bound) in MSA-P and 16.8 (dysarthria), 21.6 (diagnosis), 21.7 (frequent falling), 24.0 months (wheel chair bound) in PSP. In the case of MSA, dizziness may occur for the first time. Thus, when the patient complains of non-specific dizziness, a follow-up examination to distinguish it from MSA can be helpful. There was a trend for patients with MSA-C to reach more disability milestones than in MSA-P and PSP before diagnosis. It may explain why patients with MSA-C are required more detail history taking and neurologic examination at an earlier stage.

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  • A neurologist’s perspective of approach to falls in the elderly
    Sandhya Manorenj, Reshma S Shaik
    Annals of Movement Disorders.2024; 7(1): 3.     CrossRef
  • Quantitative brain stem assessment in discriminating neurodegenerative disorders from normal pressure hydrocephalus
    Charalampos Georgiopoulos, Stergios Papadimitriou, Dag Nyholm, Lena Kilander, Malin Löwenmark, David Fällmar, Johan Virhammar
    Journal of Neuroimaging.2024;[Epub]     CrossRef
  • Disease course and treatment patterns in progressive supranuclear palsy: A real-world study
    John C. Morgan, Xiaolan Ye, Jennifer A. Mellor, Keisha J. Golden, Jorge Zamudio, Louis A. Chiodo, Yanjun Bao, Tao Xie
    Journal of the Neurological Sciences.2021; 421: 117293.     CrossRef
  • Progression of Oropharyngeal Dysphagia in Patients with Multiple System Atrophy
    Hui Jae Do, Han Gil Seo, Hyun Haeng Lee, Byung-Mo Oh, Yoon Kim, Aryun Kim, Han-Joon Kim, Beomseok Jeon, Tai Ryoon Han
    Dysphagia.2020; 35(1): 24.     CrossRef
  • Is There a Difference in Autonomic Dysfunction Between Multiple System Atrophy Subtypes?
    Divyani Garg, Achal Kumar Srivastava, Ashok Kumar Jaryal, Roopa Rajan, Akanksha Singh, Awadh Kishor Pandit, Deepti Vibha, Garima Shukla, Ajay Garg, Ravindra Mohan Pandey, Kameshwar Prasad
    Movement Disorders Clinical Practice.2020; 7(4): 405.     CrossRef
  • Models of multiple system atrophy
    He-Jin Lee, Diadem Ricarte, Darlene Ortiz, Seung-Jae Lee
    Experimental & Molecular Medicine.2019; 51(11): 1.     CrossRef
  • Multiple System Atrophy: An Oligodendroglioneural Synucleinopathy1
    Kurt A. Jellinger, George Perry, Jesus Avila, Massimo Tabaton, Xiongwei Zhu
    Journal of Alzheimer's Disease.2018; 62(3): 1141.     CrossRef
  • Present and future of disease-modifying therapies in multiple system atrophy
    Miguel Lopez-Cuina, Alexandra Foubert-Samier, François Tison, Wassilios G. Meissner
    Autonomic Neuroscience.2018; 211: 31.     CrossRef
  • Different subregional metabolism patterns in patients with cerebellar ataxia by 18F-fluorodeoxyglucose positron emission tomography
    Minyoung Oh, Jae Seung Kim, Jungsu S. Oh, Chong Sik Lee, Sun Ju Chung, Byeong-Cheol Ahn
    PLOS ONE.2017; 12(3): e0173275.     CrossRef
  • Vestibular Deficits in Neurodegenerative Disorders: Balance, Dizziness, and Spatial Disorientation
    Thomas Cronin, Qadeer Arshad, Barry M. Seemungal
    Frontiers in Neurology.2017;[Epub]     CrossRef
  • Progressive supranuclear palsy: progression and survival
    Julieta E. Arena, Stephen D. Weigand, Jennifer L. Whitwell, Anhar Hassan, Scott D. Eggers, Günter U. Höglinger, Irene Litvan, Keith A. Josephs
    Journal of Neurology.2016; 263(2): 380.     CrossRef
  • Multiple system atrophy: pathogenic mechanisms and biomarkers
    Kurt A. Jellinger, Gregor K. Wenning
    Journal of Neural Transmission.2016; 123(6): 555.     CrossRef
  • Urinary Dysfunction in Progressive Supranuclear Palsy Compared with Other Parkinsonian Disorders
    Tatsuya Yamamoto, Fuyuki Tateno, Ryuji Sakakibara, Shogo Furukawa, Masato Asahina, Tomoyuki Uchiyama, Shigeki Hirano, Yoshitaka Yamanaka, Miki Fuse, Yasuko Koga, Mitsuru Yanagisawa, Satoshi Kuwabara, Jong-Ling Fuh
    PLOS ONE.2016; 11(2): e0149278.     CrossRef
  • Movement and Other Neurodegenerative Syndromes in Patients with Systemic Rheumatic Diseases
    Rikitha Menezes, Alexander Pantelyat, Izlem Izbudak, Julius Birnbaum
    Medicine.2015; 94(31): e0971.     CrossRef
Case Report
Levodopa-Induced Facial Dystonia in a Case of Progressive Supranuclear Palsy
Eun Joo Chung, Sang Jin Kim
J Mov Disord. 2012;5(1):28-32.
DOI: https://doi.org/10.14802/jmd.12008
  • 17,185 View
  • 68 Download
  • 4 Crossref
AbstractAbstract PDF

Progressive supranuclear palsy (PSP) is frequently misdiagnosed as other Parkinsonism because of clinical heterogeneity of PSP. We present here a case of a 67-year-old male patient with frontotemporal dementia-like cognitive impairment including language difficulties and abnormal behaviors. He showed severe facial dystonia after the levodopa treatment. Herein, we describe an unusual case of a patient presenting with PSP which, we believe could contribute to our knowledge about atypical leveodopa-induced facial dystonia in PSP.

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  • Use of botulinum toxin in the management of dystonia in Parkinson’s disease
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    Frontiers in Neuroscience.2024;[Epub]     CrossRef
  • Lower Cranial Dystonia with Inflated Cheeks: A Case of Dystonic Respiratory Failure
    Takashi Suzuki, Takao Makifuchi, Nobuyoshi Fukuhara
    Internal Medicine.2023; 62(11): 1671.     CrossRef
  • Dystonia in atypical parkinsonian disorders
    Luca Marsili, Matteo Bologna, Maja Kojovic, Alfredo Berardelli, Alberto J. Espay, Carlo Colosimo
    Parkinsonism & Related Disorders.2019; 66: 25.     CrossRef
  • A Review of Treatment Options for Progressive Supranuclear Palsy
    Maria Stamelou, Günter Höglinger
    CNS Drugs.2016; 30(7): 629.     CrossRef

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