Journal of Movement Disorders

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; Received January 7, 2024 Accepted January 30, 2024 Published online January 31, 2024; DOI: https://doi.org/10.14802/jmd.24009 [Epub ahead of print]

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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.

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Parkinson’s Disease is Predominantly a Genetic Disease
Shen-Yang Lim, Christine Klein
Journal of Parkinson's Disease.2024; : 1. CrossRef

Original Article

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

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Abstract PDF Supplementary 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.

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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

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Abstract 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.

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Parkinson’s Disease is Predominantly a Genetic Disease
Shen-Yang Lim, Christine Klein
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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
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Dementia Prevention in Clinical Practice
Kellyann Niotis, Kiarra Akiyoshi, Caroline Carlton, Richard Isaacson
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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

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Abstract 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.

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Autonomic dysfunction in progressive supranuclear palsy
Francesca Baschieri, Maria Vitiello, Pietro Cortelli, Giovanna Calandra-Buonaura, Francesca Morgante
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PDQ-8: A Simplified and Effective Tool Measuring Life Quality in Progressive Supranuclear Palsy
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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
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Neurological update: the palliative care landscape for atypical parkinsonian syndromes
Noreen O’Shea, Shane Lyons, Stephen Higgins, Sean O’Dowd
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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
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Joshua Flavell, Peter J. Nestor
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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
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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

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Abstract 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.

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Deciphering the saccade velocity profile of progressive supranuclear palsy: A sign of latent cerebellar/brainstem dysfunction?
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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

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Abstract 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.

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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

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Abstract 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.

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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
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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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Abstract PDF

Objective
Clinicopathological studies over the last decade have broadened the clinical spectrum of progressive supranuclear palsy (PSP) to include several distinct clinical syndromes. We examined the cognitive profiles of patients with PSP-Richardson’s syndrome (PSP-RS) and two atypical ‘brainstem predominant’ PSP phenotypes (PSP-parkinsonism, PSP-P; and PSP-pure akinesia with gait freezing, PSP-PAGF) using a comprehensive neuropsychological battery.
Methods
Fourteen patients diagnosed as PSP-RS, three patients with PSP-P and four patients with PSP-PAGF were assessed using a comprehensive battery of neuropsychological tests.
Results
The typical PSP-RS subgroup demonstrated greater impairments in processing speed [t(19) = -4.10, p = 0.001 (d =1.66)] and executive function [t(19) = -2.63, p = 0.02 (d = 1.20)] compared to the ‘brainstem predominant’ PSP phenotype.
Conclusion
This is the first prospective study to demonstrate that PSP-RS and ‘brainstem predominant’ PSP phenotypes can be differentiated on cognitive grounds. These differences correspond with variations in pathological profiles reported in the literature.

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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
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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

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Abstract PDF Supplementary 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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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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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.

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Central nystagmus in progressive supranuclear palsy: A neglected clinical feature?
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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

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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.

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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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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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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

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Abstract 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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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

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Abstract 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.

Citations

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Parkinsonism & Related Disorders.2019; 66: 25. CrossRef
A Review of Treatment Options for Progressive Supranuclear Palsy
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