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Yun Joong Kim 15 Articles
Comparing Montreal Cognitive Assessment Performance in Parkinson’s Disease Patients: Age- and Education-Adjusted Cutoffs vs. Machine Learning
Kyeongmin Baek, Young Min Kim, Han Kyu Na, Junki Lee, Dong Ho Shin, Seok-Jae Heo, Seok Jong Chung, Kiyong Kim, Phil Hyu Lee, Young H. Sohn, Jeehee Yoon, Yun Joong Kim
J Mov Disord. 2024;17(2):171-180.   Published online February 13, 2024
DOI: https://doi.org/10.14802/jmd.23271
  • 1,170 View
  • 77 Download
AbstractAbstract PDFSupplementary Material
Objective
The Montreal Cognitive Assessment (MoCA) is recommended for general cognitive evaluation in Parkinson’s disease (PD) patients. However, age- and education-adjusted cutoffs specifically for PD have not been developed or systematically validated across PD cohorts with diverse education levels.
Methods
In this retrospective analysis, we utilized data from 1,293 Korean patients with PD whose cognitive diagnoses were determined through comprehensive neuropsychological assessments. Age- and education-adjusted cutoffs were formulated based on 1,202 patients with PD. To identify the optimal machine learning model, clinical parameters and MoCA domain scores from 416 patients with PD were used. Comparative analyses between machine learning methods and different cutoff criteria were conducted on an additional 91 consecutive patients with PD.
Results
The cutoffs for cognitive impairment decrease with increasing age within the same education level. Similarly, lower education levels within the same age group correspond to lower cutoffs. For individuals aged 60–80 years, cutoffs were set as follows: 25 or 24 years for those with more than 12 years of education, 23 or 22 years for 10–12 years, and 21 or 20 years for 7–9 years. Comparisons between age- and education-adjusted cutoffs and the machine learning method showed comparable accuracies. The cutoff method resulted in a higher sensitivity (0.8627), whereas machine learning yielded higher specificity (0.8250).
Conclusion
Both the age- and education-adjusted cutoff methods and machine learning methods demonstrated high effectiveness in detecting cognitive impairment in PD patients. This study highlights the necessity of tailored cutoffs and suggests the potential of machine learning to improve cognitive assessment in PD patients.
Potential Link Between Cognition and Motor Reserve in Patients With Parkinson’s Disease
Seok Jong Chung, Yae Ji Kim, Yun Joong Kim, Hye Sun Lee, Mijin Yun, Phil Hyu Lee, Yong Jeong, Young H. Sohn
J Mov Disord. 2022;15(3):249-257.   Published online September 7, 2022
DOI: https://doi.org/10.14802/jmd.22063
  • 3,047 View
  • 151 Download
  • 6 Web of Science
  • 7 Crossref
AbstractAbstract PDFSupplementary Material
Objective
To investigate whether there is a link between cognitive function and motor reserve (i.e., individual capacity to cope with nigrostriatal dopamine depletion) in patients with newly diagnosed Parkinson’s disease (PD).
Methods
A total of 163 patients with drug-naïve PD who underwent 18F-FP-CIT PET, brain MRI, and a detailed neuropsychological test were enrolled. We estimated individual motor reserve based on initial motor deficits and striatal dopamine depletion using a residual model. We performed correlation analyses between motor reserve estimates and cognitive composite scores. Diffusion connectometry analysis was performed to map the white matter fiber tracts, of which fractional anisotropy (FA) values were well correlated with motor reserve estimates. Additionally, Cox regression analysis was used to assess the effect of initial motor reserve on the risk of dementia conversion.
Results
The motor reserve estimate was positively correlated with the composite score of the verbal memory function domain (γ = 0.246) and with the years of education (γ = 0.251). Connectometry analysis showed that FA values in the left fornix were positively correlated with the motor reserve estimate, while no fiber tracts were negatively correlated with the motor reserve estimate. Cox regression analysis demonstrated that higher motor reserve estimates tended to be associated with a lower risk of dementia conversion (hazard ratio, 0.781; 95% confidence interval, 0.576–1.058).
Conclusion
The present study demonstrated that the motor reserve estimate was well correlated with verbal memory function and with white matter integrity in the left fornix, suggesting a possible link between cognition and motor reserve in patients with PD.

Citations

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  • Hippocampal Perfusion Affects Motor and Cognitive Functions in Parkinson Disease: An Early Phase 18F‐FP‐CIT Positron Emission Tomography Study
    Min Young Chun, Seok Jong Chung, Su Hong Kim, Chan Wook Park, Seong Ho Jeong, Hye Sun Lee, Phil Hyu Lee, Young H. Sohn, Yong Jeong, Yun Joong Kim
    Annals of Neurology.2024; 95(2): 388.     CrossRef
  • Imaging Procedure and Clinical Studies of [18F]FP-CIT PET
    Changhwan Sung, Seung Jun Oh, Jae Seung Kim
    Nuclear Medicine and Molecular Imaging.2024;[Epub]     CrossRef
  • Influence of cognitive reserve on cognitive and motor function in α-synucleinopathies: A systematic review and multilevel meta-analysis
    Isaac Saywell, Lauren Foreman, Brittany Child, Alexander L. Phillips-Hughes, Lyndsey Collins-Praino, Irina Baetu
    Neuroscience & Biobehavioral Reviews.2024; 161: 105672.     CrossRef
  • Structural underpinnings and long-term effects of resilience in Parkinson’s disease
    Verena Dzialas, Merle C. Hoenig, Stéphane Prange, Gérard N. Bischof, Alexander Drzezga, Thilo van Eimeren
    npj Parkinson's Disease.2024;[Epub]     CrossRef
  • Considering the response in addition to the challenge – a narrative review in appraisal of a motor reserve framework
    Daniel Zeller, Shawn Hiew, Thorsten Odorfer, Carine Nguemeni
    Aging.2024; 16(6): 5772.     CrossRef
  • Defining the concept of reserve in the motor domain: a systematic review
    Andreina Giustiniani, Angelo Quartarone
    Frontiers in Neuroscience.2024;[Epub]     CrossRef
  • Extra-Basal Ganglia Brain Structures Are Related to Motor Reserve in Parkinson’s Disease
    Jinyoung Youn, Ji Hye Won, Mansu Kim, Junmo Kwon, Seung Hwan Moon, Minkyeong Kim, Jong Hyun Ahn, Jun Kyu Mun, Hyunjin Park, Jin Whan Cho
    Journal of Parkinson's Disease.2023; 13(1): 39.     CrossRef
Accuracy of Machine Learning Using the Montreal Cognitive Assessment for the Diagnosis of Cognitive Impairment in Parkinson’s Disease
Junbeom Jeon, Kiyong Kim, Kyeongmin Baek, Seok Jong Chung, Jeehee Yoon, Yun Joong Kim
J Mov Disord. 2022;15(2):132-139.   Published online May 26, 2022
DOI: https://doi.org/10.14802/jmd.22012
  • 3,419 View
  • 140 Download
  • 2 Web of Science
  • 2 Crossref
AbstractAbstract PDFSupplementary Material
Objective
The Montreal Cognitive Assessment (MoCA) is recommended for assessing general cognition in Parkinson’s disease (PD). Several cutoffs of MoCA scores for diagnosing PD with cognitive impairment (PD-CI) have been proposed, with varying sensitivity and specificity. This study investigated the utility of machine learning algorithms using MoCA cognitive domain scores for improving diagnostic performance for PD-CI.
Methods
In total, 2,069 MoCA results were obtained from 397 patients with PD enrolled in the Parkinson’s Progression Markers Initiative database with a diagnosis of cognitive status based on comprehensive neuropsychological assessments. Using the same number of MoCA results randomly sampled from patients with PD with normal cognition or PD-CI, discriminant validity was compared between machine learning (logistic regression, support vector machine, or random forest) with domain scores and a cutoff method.
Results
Based on cognitive status classification using a dataset that permitted sampling of MoCA results from the same individual (n = 221 per group), no difference was observed in accuracy between the cutoff value method (0.74 ± 0.03) and machine learning (0.78 ± 0.03). Using a more stringent dataset that excluded MoCA results (n = 101 per group) from the same patients, the accuracy of the cutoff method (0.66 ± 0.05), but not that of machine learning (0.74 ± 0.07), was significantly reduced. Inclusion of cognitive complaints as an additional variable improved the accuracy of classification using the machine learning method (0.87–0.89).
Conclusion
Machine learning analysis using MoCA domain scores is a valid method for screening cognitive impairment in PD.

Citations

Citations to this article as recorded by  
  • Comparing Montreal Cognitive Assessment Performance in Parkinson’s Disease Patients: Age- and Education-Adjusted Cutoffs vs. Machine Learning
    Kyeongmin Baek, Young Min Kim, Han Kyu Na, Junki Lee, Dong Ho Shin, Seok-Jae Heo, Seok Jong Chung, Kiyong Kim, Phil Hyu Lee, Young H. Sohn, Jeehee Yoon, Yun Joong Kim
    Journal of Movement Disorders.2024; 17(2): 171.     CrossRef
  • Machine learning for the detection and diagnosis of cognitive impairment in Parkinson’s Disease: A systematic review
    Callum Altham, Huaizhong Zhang, Ella Pereira, Farzin Hajebrahimi
    PLOS ONE.2024; 19(5): e0303644.     CrossRef
Evidence of Inflammation in Parkinson’s Disease and Its Contribution to Synucleinopathy
Thuy Thi Lai, Yun Joong Kim, Hyeo-il Ma, Young Eun Kim
J Mov Disord. 2022;15(1):1-14.   Published online November 3, 2021
DOI: https://doi.org/10.14802/jmd.21078
  • 7,548 View
  • 540 Download
  • 12 Web of Science
  • 13 Crossref
AbstractAbstract PDF
Accumulation of alpha-synuclein (αSyn) protein in neurons is a renowned pathological hallmark of Parkinson’s disease (PD). In addition, accumulating evidence indicates that activated inflammatory responses are involved in the pathogenesis of PD. Thus, achieving a better understanding of the interaction between inflammation and synucleinopathy in relation to the PD process will facilitate the development of promising disease-modifying therapies. In this review, the evidence of inflammation in PD is discussed, and human, animal, and laboratory studies relevant to the relationship between inflammation and αSyn are explored as well as new therapeutic targets associated with this relationship.

Citations

Citations to this article as recorded by  
  • Recent advances of nanomaterials for intervention in Parkinson’s disease in the context of anti-inflammation
    Ruoyu Zhang, Xiaotong Chen, Yuanyuan Cheng, Zixuan Chen, Xiaoqiong Li, Yulin Deng
    Coordination Chemistry Reviews.2024; 502: 215616.     CrossRef
  • Microglial inhibition alleviates alpha-synuclein propagation and neurodegeneration in Parkinson’s disease mouse model
    Thuy Thi Lai, Young Eun Kim, Linh Thi Nhat Nguyen, Tinh Thi Nguyen, In Hee Kwak, Franziska Richter, Yun Joong Kim, Hyeo-il Ma
    npj Parkinson's Disease.2024;[Epub]     CrossRef
  • New Insights into Oxidative Stress and Inflammatory Response in Neurodegenerative Diseases
    Eveljn Scarian, Camilla Viola, Francesca Dragoni, Rosalinda Di Gerlando, Bartolo Rizzo, Luca Diamanti, Stella Gagliardi, Matteo Bordoni, Orietta Pansarasa
    International Journal of Molecular Sciences.2024; 25(5): 2698.     CrossRef
  • Neuroinflammation following anti-parkinsonian drugs in early Parkinson’s disease: a longitudinal PET study
    Tatsuhiro Terada, Tomoyasu Bunai, Takanori Hashizume, Takashi Matsudaira, Masamichi Yokokura, Hirotsugu Takashima, Takashi Konishi, Tomokazu Obi, Yasuomi Ouchi
    Scientific Reports.2024;[Epub]     CrossRef
  • Neuroinflammation and Immune Dysfunction in the Mechanisms of Development of Parkinson’s Disease
    G. V. Idova, E. L. Alperina, S. Ya. Zhanaeva
    Neuroscience and Behavioral Physiology.2023; 53(9): 1534.     CrossRef
  • Vitamin D3 actions on astrocyte cells: A target for therapeutic strategy in Parkinson’s disease?
    Erlânia Alves de Siqueira, Emanuel Paula Magalhães, Ramon Róseo Paula Pessoa Bezerra de Menezes, Tiago Lima Sampaio, Danya Bandeira Lima, Conceição da Silva Martins, Kelly Rose Tavares Neves, Gerly Anne de Castro Brito, Alice Maria Costa Martins, Glauce S
    Neuroscience Letters.2023; 793: 136997.     CrossRef
  • ASC specks exacerbate α‑synuclein pathology via amplifying NLRP3 inflammasome activities
    Ran Zheng, Yiqun Yan, Shaobing Dai, Yang Ruan, Ying Chen, Chenjun Hu, Zhihao Lin, Naijia Xue, Zhe Song, Yi Liu, Baorong Zhang, Jiali Pu
    Journal of Neuroinflammation.2023;[Epub]     CrossRef
  • NLRP3 Inflammasome-Mediated Neuroinflammation and Related Mitochondrial Impairment in Parkinson’s Disease
    Qiu-Qin Han, Weidong Le
    Neuroscience Bulletin.2023; 39(5): 832.     CrossRef
  • The Role of Ubiquitin–Proteasome System and Mitophagy in the Pathogenesis of Parkinson's Disease
    Yu Liang, Guangshang Zhong, Mingxin Ren, Tingting Sun, Yangyang Li, Ming Ye, Caiyun Ma, Yu Guo, Changqing Liu
    NeuroMolecular Medicine.2023; 25(4): 471.     CrossRef
  • Anethole attenuates motor dysfunctions, striatal neuronal activity deficiency and blood brain barrier permeability by decreasing striatal α-synuclein and oxidative stress in rotenone-induced Parkinson’s disease of male rats
    Sadegh Moradi Vastegani, Seyed Esmaeil Khoshnam, Samireh Ghafouri, Nima Bakhtiari, Yaghoob Farbood, Alireza Sarkaki, Wesley Lyeverton Correia Ribeiro
    PLOS ONE.2023; 18(11): e0294612.     CrossRef
  • NEUROINFLAMMATION AND IMMUNE DYSFUNCTION IN THE PATHOGENESIS OF PARKINSON’S DISEASE
    G. V. Idova, E. L. Alperina, S. Ya. Zhanaeva
    Журнал высшей нервной деятельности им. И.П. Павлова.2023; 73(4): 454.     CrossRef
  • A2A Adenosine Receptor Antagonists: Are Triazolotriazine and Purine Scaffolds Interchangeable?
    Andrea Spinaci, Catia Lambertucci, Michela Buccioni, Diego Dal Ben, Claudia Graiff, Maria Cristina Barbalace, Silvana Hrelia, Cristina Angeloni, Seyed Khosrow Tayebati, Massimo Ubaldi, Alessio Masi, Karl-Norbert Klotz, Rosaria Volpini, Gabriella Marucci
    Molecules.2022; 27(8): 2386.     CrossRef
  • Oligomeropathies, inflammation and prion protein binding
    Gianluigi Forloni, Pietro La Vitola, Claudia Balducci
    Frontiers in Neuroscience.2022;[Epub]     CrossRef
A Patient with Neuroferritinopathy Presenting with Juvenile-Onset Voice Tremor
Chan Wook Park, Nan Young Kim, Yun Joong Kim, Sook Keun Song, Chul Hyoung Lyoo
J Mov Disord. 2020;13(1):66-68.   Published online August 9, 2019
DOI: https://doi.org/10.14802/jmd.19038
  • 6,842 View
  • 104 Download
  • 3 Web of Science
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Citations

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  • Cerebral Iron Deposition in Neurodegeneration
    Petr Dusek, Tim Hofer, Jan Alexander, Per M. Roos, Jan O. Aaseth
    Biomolecules.2022; 12(5): 714.     CrossRef
  • Pathogenic mechanism and modeling of neuroferritinopathy
    Anna Cozzi, Paolo Santambrogio, Maddalena Ripamonti, Ermanna Rovida, Sonia Levi
    Cellular and Molecular Life Sciences.2021; 78(7): 3355.     CrossRef
  • Brain MRI Pattern Recognition in Neurodegeneration With Brain Iron Accumulation
    Jae-Hyeok Lee, Ji Young Yun, Allison Gregory, Penelope Hogarth, Susan J. Hayflick
    Frontiers in Neurology.2020;[Epub]     CrossRef
Novel Ferritin Light Chain Gene Mutation in a Korean Patient with Neuroferritinopathy
So Hoon Yoon, Nan Young Kim, Yun Joong Kim, Chul Hyoung Lyoo
J Mov Disord. 2019;12(1):63-65.   Published online January 30, 2019
DOI: https://doi.org/10.14802/jmd.18062
  • 5,999 View
  • 80 Download
  • 5 Web of Science
  • 5 Crossref
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Citations

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  • Transcriptome Profile in the Mouse Brain of Hepatic Encephalopathy and Alzheimer’s Disease
    Young-Kook Kim, Yoon Seok Jung, Juhyun Song
    International Journal of Molecular Sciences.2022; 24(1): 675.     CrossRef
  • Pathogenic mechanism and modeling of neuroferritinopathy
    Anna Cozzi, Paolo Santambrogio, Maddalena Ripamonti, Ermanna Rovida, Sonia Levi
    Cellular and Molecular Life Sciences.2021; 78(7): 3355.     CrossRef
  • A Patient with Neuroferritinopathy Presenting with Juvenile-Onset Voice Tremor
    Chan Wook Park, Nan Young Kim, Yun Joong Kim, Sook Keun Song, Chul Hyoung Lyoo
    Journal of Movement Disorders.2020; 13(1): 66.     CrossRef
  • Brain MRI Pattern Recognition in Neurodegeneration With Brain Iron Accumulation
    Jae-Hyeok Lee, Ji Young Yun, Allison Gregory, Penelope Hogarth, Susan J. Hayflick
    Frontiers in Neurology.2020;[Epub]     CrossRef
  • Iron, Ferritin, Hereditary Ferritinopathy, and Neurodegeneration
    Barry B. Muhoberac, Ruben Vidal
    Frontiers in Neuroscience.2019;[Epub]     CrossRef
Presynaptic Dopaminergic Degeneration in a Patient with Beta-Propeller Protein-Associated Neurodegeneration Documented by Dopamine Transporter Positron Emission Tomography Images: A Case Report
Min Ki Kim, Nan Young Kim, Sangkyoon Hong, Hyeo-Il Ma, Yun Joong Kim
J Mov Disord. 2017;10(3):161-163.   Published online September 12, 2017
DOI: https://doi.org/10.14802/jmd.17044
  • 5,378 View
  • 94 Download
  • 2 Web of Science
  • 3 Crossref
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Citations

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  • Comprehensive analysis of autophagic functions of WIPI family proteins and their implications for the pathogenesis of β-propeller associated neurodegeneration
    Takahiro Shimizu, Norito Tamura, Taki Nishimura, Chieko Saito, Hayashi Yamamoto, Noboru Mizushima
    Human Molecular Genetics.2023; 32(16): 2623.     CrossRef
  • Interactions of dopamine, iron, and alpha-synuclein linked to dopaminergic neuron vulnerability in Parkinson's disease and Neurodegeneration with Brain Iron Accumulation disorders
    Rachel M. Wise, Annika Wagener, Urban M. Fietzek, Thomas Klopstock, Eugene V. Mosharov, Fabio A. Zucca, David Sulzer, Luigi Zecca, Lena F. Burbulla
    Neurobiology of Disease.2022; 175: 105920.     CrossRef
  • WDR45, one gene associated with multiple neurodevelopmental disorders
    Yingying Cong, Vincent So, Marina A. J. Tijssen, Dineke S. Verbeek, Fulvio Reggiori, Mario Mauthe
    Autophagy.2021; 17(12): 3908.     CrossRef
Patients and Their Caregivers’ Burdens for Parkinson’s Disease in Korea
Jong Sam Baik, Joong-Seok Kim, Seong-Beom Koh, Jin Whan Cho, Phil Hyu Lee, Hyeo-Il Ma, Yun Joong Kim, Tae-Beom Ahn, Sang Jin Kim, Yong Duk Kim, Seong-min Choi, Ho-Won Lee, Hee Tae Kim
J Mov Disord. 2017;10(3):109-115.   Published online September 22, 2017
DOI: https://doi.org/10.14802/jmd.17053
  • 7,333 View
  • 227 Download
  • 11 Web of Science
  • 11 Crossref
AbstractAbstract PDF
Objective
Many patients with Parkinson’s disease (PD) suffer from motor and non-motor symptoms. According to these variable symptoms of PD, patients or caregivers have a poorer quality of life than patients with other neurodegenerative diseases. Since the difficulties are varied for all patients, prioritizing their difficulties differs among all cases. The goal of this study was to investigate the burdens of PD among the caregivers as well as patients and to identify areas requiring aid from the government.
Methods
We surveyed the awareness and perceptions of PD in patients and caregivers of PD by a face-to-face questionnaire. The questionnaire was divided into three sections: symptoms of PD (part A), desire for policies (part B), and difficulties faced by their caregivers (part C). Part A comprised 8 questions, Part B had 2 questions, and Part C had 3 questions.
Results
In total, 853 subjects (702 patients and 151 caregivers) were enrolled in this study. The major difficulties experienced by PD patients were physical (67%), psychiatric (60%) and socio-economic (52%). Assessing the physical difficulties, more than half the patients experienced severe difficulties (29% very severe, 39% severe). Psychiatric difficulties were assessed as severe (35%) and very severe (21%) among the patients. Severe difficulties were also experienced socio-economically, at 52% in patients and 49% in caregivers, especially among patients in their fifties (58%) and those with their spouse (65%) as caregivers. The topmost need was the introduction of new technology for treatment of PD (62%), followed by relief of costs for treatment (38%) and a family support system (31%). The majority (91%) of the patients were diagnosed with PD within two years after onset of symptoms.
Conclusion
We know that the difficulties of PD and the needs for government assistance are different between patients and caregivers. These results emphasize that perceiving the difficulties and needs of patients and caregivers early can help to prevent and ameliorate the burden of disease.

Citations

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  • Challenges in Parkinson’s Disease Care—In Light of the COVID-19 Pandemic
    Kyung Ah Woo, Han-Joon Kim, Beomseok Jeon
    Journal of Movement Disorders.2023; 16(1): 52.     CrossRef
  • Efficacy and safety of a combination of emotional freedom technique with acupuncture versus acupuncture alone to treat psychiatric symptoms in Parkinson’s disease: A protocol for a randomized, assessor-blind, parallel-group clinical trial
    Dong-Hoon Kang, Ju-Yeon Kim, Yang-Chun Park, Ho-Ryong Yoo, In Chul Jung
    Medicine.2023; 102(21): e33714.     CrossRef
  • Exploring Unmet Information Needs of People with Parkinson’s Disease and Their Families: Focusing on Information Sharing in an Online Patient Community
    Hyeon Sik Chu, Hye Young Jang
    International Journal of Environmental Research and Public Health.2022; 19(5): 2521.     CrossRef
  • Participants' perspective on a COVID-19 online vocal group stimulation for people with Parkinson's disease
    Marie-Christine Hallé, Charline Delorme, Édith Coulombe, Ouswa Rekik, Ingrid Verduyckt
    Frontiers in Rehabilitation Sciences.2022;[Epub]     CrossRef
  • Group singing improves quality of life for people with Parkinson’s: an international study
    J. Yoon Irons, Grenville Hancox, Trish Vella-Burrows, Eun-Young Han, Hyun-Ju Chong, David Sheffield, Donald E. Stewart
    Aging & Mental Health.2021; 25(4): 650.     CrossRef
  • Exploring the perceptions and stigmatizing experiences of Israeli family caregivers of people with Parkinson's disease
    Hanan AboJabel, Einat Argavan, Sharon Hassin-Baer, Rivka Inzelberg, Perla Werner
    Journal of Aging Studies.2021; 56: 100910.     CrossRef
  • Perceived online social support for Parkinson’s disease patients: The role of support type, uncertainty, contentment, and psychological quality of life
    Surin Chung, Eunjin (Anna) Kim, J. Brian Houston
    Communication Quarterly.2021; 69(3): 259.     CrossRef
  • Delivering patient-centered care in Parkinson's disease: Challenges and consensus from an international panel
    Roongroj Bhidayasiri, Pattamon Panyakaew, Claudia Trenkwalder, Beomseok Jeon, Nobutaka Hattori, Priya Jagota, Yih-Ru Wu, Elena Moro, Shen-Yang Lim, Huifang Shang, Raymond Rosales, Jee-Young Lee, Win Min Thit, Eng-King Tan, Thien Thien Lim, Ngoc Tai Tran,
    Parkinsonism & Related Disorders.2020; 72: 82.     CrossRef
  • Understanding patients’ and caregivers’ perspectives and educational needs in Parkinson’s disease: a multi-ethnic Asian study
    Xing Yan Choo, Shen-Yang Lim, Karuthan Chinna, Yan Jing Tan, Voon Wei Yong, Jia Lun Lim, Kar Foo Lau, Jing Yi Chung, Jun Min Em, Hui Ting Tan, Jia Hwa Lim, Seng Beng Tan, Chong Tin Tan, Ai Huey Tan
    Neurological Sciences.2020; 41(10): 2831.     CrossRef
  • Nörolojik Hastalık ve Evlilik
    Mehmet ÖNGER, Tuba AYDIN
    Sakarya Medical Journal.2020;[Epub]     CrossRef
  • The burden of care and the understanding of disease in Parkinson’s disease
    Geum-Bong Lee, Hyunhee Woo, Su-Yoon Lee, Sang-Myung Cheon, Jae Woo Kim, Oscar Arias-Carrion
    PLOS ONE.2019; 14(5): e0217581.     CrossRef
Validation of the Korean Version of the Scale for Outcomes in Parkinson’s Disease-Autonomic
Ji-Young Kim, In-Uk Song, Seong-Beom Koh, Tae-Beom Ahn, Sang Jin Kim, Sang-Myung Cheon, Jin Whan Cho, Yun Joong Kim, Hyeo-Il Ma, Mee-Young Park, Jong Sam Baik, Phil Hyu Lee, Sun Ju Chung, Jong-Min Kim, Han-Joon Kim, Young-Hee Sung, Do Young Kwon, Jae-Hyeok Lee, Jee-Young Lee, Ji Sun Kim, Ji Young Yun, Hee Jin Kim, Jin Young Hong, Mi-Jung Kim, Jinyoung Youn, Ji Seon Kim, Eung Seok Oh, Hui-Jun Yang, Won Tae Yoon, Sooyeoun You, Kyum-Yil Kwon, Hyung-Eun Park, Su-Yun Lee, Younsoo Kim, Hee-Tae Kim, Joong-Seok Kim
J Mov Disord. 2017;10(1):29-34.   Published online January 18, 2017
DOI: https://doi.org/10.14802/jmd.16057
  • 15,466 View
  • 361 Download
  • 30 Web of Science
  • 30 Crossref
AbstractAbstract PDFSupplementary Material
Objective
Autonomic symptoms are commonly observed in patients with Parkinson’s disease (PD) and often limit the activities of daily living. The Scale for Outcomes in Parkinson’s disease-Autonomic (SCOPA-AUT) was developed to evaluate and quantify autonomic symptoms in PD. The goal of this study was to translate the original SCOPA-AUT, which was written in English, into Korean and to evaluate its reliability and validity for Korean PD patients.
Methods
For the translation, the following processes were performed: forward translation, backward translation, expert review, pretest of the pre-final version and development of the final Korean version of SCOPA-AUT (K-SCOPA-AUT). In total, 127 patients with PD from 31 movement disorder clinics of university-affiliated hospitals in Korea were enrolled in this study. All patients were assessed using the K-SCOPA-AUT and other motor, non-motor, and quality of life scores. Test-retest reliability for the K-SCOPA-AUT was assessed over a time interval of 10−14 days.
Results
The internal consistency and reliability of the K-SCOPA-AUT was 0.727 as measured by the mean Cronbach’s α-coefficient. The test-retest correlation reliability was 0.859 by the Guttman split-half coefficient. The total K-SCOPA-AUT score showed a positive correlation with other non-motor symptoms [the Korean version of non-motor symptom scale (K-NMSS)], activities of daily living (Unified Parkinson’s Disease Rating Scale part II) and quality of life [the Korean version of Parkinson’s Disease Quality of Life 39 (K-PDQ39)].
Conclusion
The K-SCOPA-AUT had good reliability and validity for the assessment of autonomic dysfunction in Korean PD patients. Autonomic symptom severities were associated with many other motor and non-motor impairments and influenced quality of life.

Citations

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  • Baseline prevalence and longitudinal assessment of autonomic dysfunction in early Parkinson’s disease
    Lanqing Yang, Huan Gao, Min Ye
    Journal of Neural Transmission.2024; 131(2): 127.     CrossRef
  • Association Between Gait and Dysautonomia in Patients With De Novo Parkinson’s Disease: Forward Gait Versus Backward Gait
    Seon-Min Lee, Mina Lee, Eun Ji Lee, Rae On Kim, Yongduk Kim, Kyum-Yil Kwon
    Journal of Movement Disorders.2023; 16(1): 59.     CrossRef
  • Beyond shallow feelings of complex affect: Non-motor correlates of subjective emotional experience in Parkinson’s disease
    Claudia Carricarte Naranjo, Claudia Sánchez Luaces, Ivonne Pedroso Ibáñez, Andrés Machado, Hichem Sahli, María Antonieta Bobes, Vincenzo De Luca
    PLOS ONE.2023; 18(2): e0281959.     CrossRef
  • Autonomic function and motor subtypes in Parkinson’s disease: a multicentre cross-sectional study
    Si-Chun Gu, Rong Shi, Chen Gao, Xiao-Lei Yuan, You Wu, Zhen-Guo Liu, Chang-De Wang, Shao-Rong Zhao, Xiqun Chen, Can-Xing Yuan, Qing Ye
    Scientific Reports.2023;[Epub]     CrossRef
  • Clinical manifestation of patients with isolated rapid eye movement sleep behavior disorder after modest-to-long disease duration
    Jung Kyung Hong, Jong-Min Kim, Ki-woong Kim, Ji Won Han, Soyeon Ahn, In-Young Yoon
    Sleep.2022;[Epub]     CrossRef
  • Associations of cognitive dysfunction with motor and non-motor symptoms in patients with de novo Parkinson’s disease
    Kyum-Yil Kwon, Suyeon Park, Rae On Kim, Eun Ji Lee, Mina Lee
    Scientific Reports.2022;[Epub]     CrossRef
  • Autonomic dysfunction in Parkinson's disease: Results from the Faroese Parkinson's disease cohort
    Aksel Berg, Sára Bech, Jan Aasly, Matthew J. Farrer, Maria Skaalum Petersen
    Neuroscience Letters.2022; 785: 136789.     CrossRef
  • Prevalence of lower urinary tract symptoms, urinary incontinence and retention in Parkinson's disease: A systematic review and meta-analysis
    Fang-Fei Li, Yu-Sha Cui, Rui Yan, Shuang-Shuang Cao, Tao Feng
    Frontiers in Aging Neuroscience.2022;[Epub]     CrossRef
  • White matter tract-specific microstructural disruption is associated with depressive symptoms in isolated RBD
    Jung-Ick Byun, Seunghwan Oh, Jun-Sang Sunwoo, Jung-Won Shin, Tae-Joon Kim, Jin-Sun Jun, Han-Joon Kim, Won Chul Shin, Joon-Kyung Seong, Ki-Young Jung
    NeuroImage: Clinical.2022; 36: 103186.     CrossRef
  • Comparison of disease progression between brain-predominant Parkinson's disease versus Parkinson's disease with body-involvement phenotypes
    Dong-Woo Ryu, Sang-Won Yoo, Yoon-Sang Oh, Kwang-Soo Lee, Seunggyun Ha, Joong-Seok Kim
    Neurobiology of Disease.2022; 174: 105883.     CrossRef
  • Corneal confocal microscopy differentiates patients with Parkinson’s disease with and without autonomic involvement
    Ning-Ning Che, Shuai Chen, Qiu-Huan Jiang, Si-Yuan Chen, Zhen-Xiang Zhao, Xue Li, Rayaz A. Malik, Jian-Jun Ma, Hong-Qi Yang
    npj Parkinson's Disease.2022;[Epub]     CrossRef
  • Association of Nucleus Basalis of Meynert Functional Connectivity and Cognition in Idiopathic Rapid-Eye-Movement Sleep Behavior Disorder
    Jung-Ick Byun, Kwang Su Cha, Minah Kim, Woo-Jin Lee, Han Sang Lee, Jun-Sang Sunwoo, Jung-Won Shin, Tae-Joon Kim, Jin-Sun Jun, Han-Joon Kim, Won Chul Shin, Carlos H. Schenck, Sang Kun Lee, Ki-Young Jung
    Journal of Clinical Neurology.2022; 18(5): 562.     CrossRef
  • White Matter Tract-Specific Microstructural Disruption is Associated with Depressive Symptoms in Isolated Rbd
    Jung-Ick Byun, Seunghwan Oh, Jun-Sang Sunwoo, Jung-Won Shin, Tae-Joon Kim, Jin-Sun Jun, Han-Joon Kim, Won Chul Shin, Joon-Kyung Seong, Ki-Young Jung
    SSRN Electronic Journal .2022;[Epub]     CrossRef
  • Altered insular functional connectivity in isolated REM sleep behavior disorder: a data-driven functional MRI study
    Jung-Ick Byun, Kwang Su Cha, Minah Kim, Woo-Jin Lee, Han Sang Lee, Jun-Sang Sunwoo, Jung-Won Shin, Tae-Joon Kim, Jangsup Moon, Soon-Tae Lee, Keun-Hwa Jung, Kon Chu, Man-Ho Kim, Han-Joon Kim, Won Chul Shin, Sang Kun Lee, Ki-Young Jung
    Sleep Medicine.2021; 79: 88.     CrossRef
  • Association of fall risk factors and non-motor symptoms in patients with early Parkinson’s disease
    Kyum-Yil Kwon, Suyeon Park, Eun Ji Lee, Mina Lee, Hyunjin Ju
    Scientific Reports.2021;[Epub]     CrossRef
  • Impact of motor subtype on non‐motor symptoms and fall‐related features in patients with early Parkinson's disease
    Kyum‐Yil Kwon, Eun Ji Lee, Mina Lee, Hyunjin Ju, Kayeong Im
    Geriatrics & Gerontology International.2021; 21(5): 416.     CrossRef
  • Extra-basal ganglia iron content and non-motor symptoms in drug-naïve, early Parkinson’s disease
    Minkyeong Kim, Seulki Yoo, Doyeon Kim, Jin Whan Cho, Ji Sun Kim, Jong Hyun Ahn, Jun Kyu Mun, Inyoung Choi, Seung-Kyun Lee, Jinyoung Youn
    Neurological Sciences.2021; 42(12): 5297.     CrossRef
  • Clinical Assessment Scales in Autonomic Nervous System Disorders
    Eun Bin Cho, Ki-Jong Park
    Journal of the Korean Neurological Association.2021; 39(2 Suppl): 60.     CrossRef
  • Cardiac sympathetic burden reflects Parkinson disease burden, regardless of high or low orthostatic blood pressure changes
    Sang-Won Yoo, Joong-Seok Kim, Yoon-Sang Oh, Dong-Woo Ryu, Seunggyun Ha, Ji-Yeon Yoo, Kwang-Soo Lee
    npj Parkinson's Disease.2021;[Epub]     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
  • Validation of the Korean version of the composite autonomic symptom scale 31 in patients with Parkinson’s disease
    Jong Hyeon Ahn, Jin Myoung Seok, Jongkyu Park, Heejeong Jeong, Younsoo Kim, Joomee Song, Inyoung Choi, Jin Whan Cho, Ju-Hong Min, Byoung Joon Kim, Jinyoung Youn, Antonina Luca
    PLOS ONE.2021; 16(10): e0258897.     CrossRef
  • Cardiac Autonomic Dysfunction Is Associated with Severity of REM Sleep without Atonia in Isolated REM Sleep Behavior Disorder
    Sooyeoun You, Kyoung Sook Won, Keun Tae Kim, Hyang Woon Lee, Yong Won Cho
    Journal of Clinical Medicine.2021; 10(22): 5414.     CrossRef
  • Characteristics of Autonomic Dysfunction in Parkinson’s Disease: A Large Chinese Multicenter Cohort Study
    Zhou Zhou, Xiaoting Zhou, Xiaoxia Zhou, Yaqin Xiang, Liping Zhu, Lixia Qin, Yige Wang, Hongxu Pan, Yuwen Zhao, Qiying Sun, Qian Xu, Xinyin Wu, Xinxiang Yan, Jifeng Guo, Beisha Tang, Zhenhua Liu
    Frontiers in Aging Neuroscience.2021;[Epub]     CrossRef
  • Autonomic Dysfunction in Parkinson's Disease: Results from the Faroese Parkinson's Disease Cohort
    Aksel Kambsskarð Berg, Sára Bech, Jan O. Aasly, Matthew J. Farrer, Maria Skaalum Petersen
    SSRN Electronic Journal .2021;[Epub]     CrossRef
  • Subtypes of Sleep Disturbance in Parkinson's Disease Based on the Cross-Culturally Validated Korean Version of Parkinson's Disease Sleep Scale-2
    Hui-Jun Yang, Han-Joon Kim, Seong-Beom Koh, Joong-Seok Kim, Tae-Beom Ahn, Sang-Myung Cheon, Jin Whan Cho, Yoon-Joong Kim, Hyeo-Il Ma, Mee Young Park, Jong Sam Baik, Phil Hyu Lee, Sun Ju Chung, Jong-Min Kim, In-Uk Song, Ji-Young Kim, Young-Hee Sung, Do You
    Journal of Clinical Neurology.2020; 16(1): 66.     CrossRef
  • Risk Factors for Falls in Patients with de novo Parkinson’s Disease: A Focus on Motor and Non-Motor Symptoms
    Kyum-Yil Kwon, Mina Lee, Hyunjin Ju, Kayeong Im
    Journal of Movement Disorders.2020; 13(2): 142.     CrossRef
  • Peripheral Blood Inflammatory Cytokines in Idiopathic REM Sleep Behavior Disorder
    Ryul Kim, Jin‐Sun Jun, Han‐Joon Kim, Ki‐Young Jung, Yong‐Won Shin, Tae‐Won Yang, Keun Tae Kim, Tae‐Joon Kim, Jung‐Ick Byun, Jun‐Sang Sunwoo, Beomseok Jeon
    Movement Disorders.2019; 34(11): 1739.     CrossRef
  • Urinary Dysfunctions and Post-Void Residual Urine in Typical and Atypical Parkinson Diseases
    Yang-Hyun Lee, Jee-Eun Lee, Dong-Woo Ryu, Yoon-Sang Oh, Kwang-Soo Lee, Sung-Hoo Hong, Joong-Seok Kim
    Journal of Parkinson's Disease.2018; 8(1): 145.     CrossRef
  • Rasch Analysis of the Clinimetric Properties of the Korean Dizziness Handicap Inventory in Patients with Parkinson Disease
    Da-Young Lee, Hui-Jun Yang, Dong-Seok Yang, Jin-Hyuk Choi, Byoung-Soo Park, Ji-Yun Park
    Research in Vestibular Science.2018; 17(4): 152.     CrossRef
  • Clinical Characteristics of Parkinson’s Disease Developed from Essential Tremor
    Dong-Woo Ryu, Si-Hoon Lee, Yoon-Sang Oh, Jae-Young An, Jeong-Wook Park, In-Uk Song, Kwang-Soo Lee, Joong-Seok Kim
    Journal of Parkinson's Disease.2017; 7(2): 369.     CrossRef
Missions of Journal of Movement Disorders
Yun Joong Kim
J Mov Disord. 2016;9(1):1-2.   Published online January 25, 2016
DOI: https://doi.org/10.14802/jmd.15063
  • 12,693 View
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PDF
Clinical Heterogeneity of Atypical Pantothenate Kinase-Associated Neurodegeneration in Koreans
Jae-Hyeok Lee, Jongkyu Park, Ho-Sung Ryu, Hyeyoung Park, Young Eun Kim, Jin Yong Hong, Sang Ook Nam, Young-Hee Sung, Seung-Hwan Lee, Jee-Young Lee, Myung Jun Lee, Tae-Hyoung Kim, Chul Hyoung Lyoo, Sun Ju Chung, Seong Beom Koh, Phil Hyu Lee, Jin Whan Cho, Mee Young Park, Yun Joong Kim, Young H. Sohn, Beom Seok Jeon, Myung Sik Lee
J Mov Disord. 2016;9(1):20-27.   Published online January 25, 2016
DOI: https://doi.org/10.14802/jmd.15058
  • 21,564 View
  • 227 Download
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  • 16 Crossref
AbstractAbstract PDFSupplementary Material
Objective
Neurodegeneration with brain iron accumulation (NBIA) represents a group of inherited movement disorders characterized by iron accumulation in the basal ganglia. Recent advances have included the identification of new causative genes and highlighted the wide phenotypic variation between and within the specific NBIA subtypes. This study aimed to investigate the current status of NBIA in Korea.
Methods
We collected genetically confirmed NBIA patients from twelve nationwide referral hospitals and from a review of the literature. We conducted a study to describe the phenotypic and genotypic characteristics of Korean adults with atypical pantothenate kinase-associated neurodegeneration (PKAN).
Results
Four subtypes of NBIA including PKAN (n = 30), PLA2G6-related neurodegeneration (n = 2), beta-propeller protein-associated neurodegeneration (n = 1), and aceruloplasminemia (n = 1) have been identified in the Korean population. The clinical features of fifteen adults with atypical PKAN included early focal limb dystonia, parkinsonism-predominant feature, oromandibular dystonia, and isolated freezing of gait (FOG). Patients with a higher age of onset tended to present with parkinsonism and FOG. The p.R440P and p.D378G mutations are two major mutations that represent approximately 50% of the mutated alleles. Although there were no specific genotype-phenotype correlations, most patients carrying the p.D378G mutation had a late-onset, atypical form of PKAN.
Conclusions
We found considerable phenotypic heterogeneity in Korean adults with atypical PKAN. The age of onset may influence the presentation of extrapyramidal symptoms.

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  • Typical pantothenate kinase-associated neurodegeneration caused by compound heterozygous mutations in PANK2 gene in a Chinese patient: a case report and literature review
    Yilun Tao, Chen Zhao, Dong Han, Yiju Wei, Lihong Wang, Wenxia Song, Xiaoze Li
    Frontiers in Neurology.2023;[Epub]     CrossRef
  • The first Vietnamese patient who presented late onset of pantothenate kinase-associated neurodegeneration diagnosed by whole exome sequencing: A case report
    Van Khanh Tran, Chi Dung Vu, Hai Anh Tran, Nguyen Thi Kim Lien, Nguyen Van Tung, Nguyen Ngoc Lan, Huy Thinh Tran, Nguyen Huy Hoang
    Medicine.2023; 102(43): e34853.     CrossRef
  • Genetic mutation spectrum of pantothenate kinase-associated neurodegeneration expanded by breakpoint sequencing in pantothenate kinase 2 gene
    Dahae Yang, Sanghyun Cho, Sung Im Cho, Manjin Kim, Moon-Woo Seong, Sung Sup Park
    Orphanet Journal of Rare Diseases.2022;[Epub]     CrossRef
  • Long-Term Outcomes of Deep Brain Stimulation in Pantothenate Kinase-Associated Neurodegeneration-Related Dystonia
    Kyung Ah Woo, Han-Joon Kim, Seung-Ho Jeon, Hye Ran Park, Kye Won Park, Seung Hyun Lee, Sun Ju Chung, Jong-Hee Chae, Sun Ha Paek, Beomseok Jeon
    Journal of Movement Disorders.2022; 15(3): 241.     CrossRef
  • Psychiatric symptoms in an adolescent reveal a novel compound heterozygous mutation of the PANK2 gene in the atypical PKAN syndrome
    Luz María González Huerta, Sorina Gómez González, Jaime Toral López
    Psychiatric Genetics.2021; 31(3): 95.     CrossRef
  • Rational Design of Novel Therapies for Pantothenate Kinase–Associated Neurodegeneration
    Nivedita Thakur, Thomas Klopstock, Suzanne Jackowski, Enej Kuscer, Fernando Tricta, Aleksandar Videnovic, Hyder A. Jinnah
    Movement Disorders.2021; 36(9): 2005.     CrossRef
  • Atypical Pantothenate Kinase-Associated Neurodegeneration with variable phenotypes in an Egyptian family
    Ali S. Shalash, Thomas W. Rösler, Ibrahim Y. Abdelrahman, Hatem S. Abulmakarem, Stefanie H. Müller, Franziska Hopfner, Gregor Kuhlenbäumer, Günter U. Höglinger, Mohamed Salama
    Heliyon.2021; : e07469.     CrossRef
  • Treatment Responsiveness of Parkinsonism in Atypical Pantothenate Kinase‐Associated Neurodegeneration
    Jeanne Feuerstein, Caroline Olvera, Michelle Fullard
    Movement Disorders Clinical Practice.2020;[Epub]     CrossRef
  • Diagnostic and clinical experience of patients with pantothenate kinase-associated neurodegeneration
    Randall D. Marshall, Abigail Collins, Maria L. Escolar, H. A. Jinnah, Thomas Klopstock, Michael C. Kruer, Aleksandar Videnovic, Amy Robichaux-Viehoever, Colleen Burns, Laura L. Swett, Dennis A. Revicki, Randall H. Bender, William R. Lenderking
    Orphanet Journal of Rare Diseases.2019;[Epub]     CrossRef
  • Intrafamilial variability and clinical heterogeneity in a family with PLA2G6-associated neurodegeneration
    Jong Kyu Park, Jinyoung Youn, Jin Whan Cho
    Precision and Future Medicine.2019; 3(3): 135.     CrossRef
  • On the complexity of clinical and molecular bases of neurodegeneration with brain iron accumulation
    C. Tello, A. Darling, V. Lupo, B. Pérez‐Dueñas, C. Espinós
    Clinical Genetics.2018; 93(4): 731.     CrossRef
  • Looking Deep into the Eye-of-the-Tiger in Pantothenate Kinase–Associated Neurodegeneration
    J.-H. Lee, A. Gregory, P. Hogarth, C. Rogers, S.J. Hayflick
    American Journal of Neuroradiology.2018; 39(3): 583.     CrossRef
  • Parkinson’s Disease and Metal Storage Disorders: A Systematic Review
    Edward Botsford, Jayan George, Ellen Buckley
    Brain Sciences.2018; 8(11): 194.     CrossRef
  • Atypical pantothenate kinase-associated neurodegeneration: Clinical description of two brothers and a review of the literature
    S. Mahoui, A. Benhaddadi, W. Ameur El Khedoud, M. Abada Bendib, M. Chaouch
    Revue Neurologique.2017; 173(10): 658.     CrossRef
  • Clinical rating scale for pantothenate kinase‐associated neurodegeneration: A pilot study
    Alejandra Darling, Cristina Tello, María Josep Martí, Cristina Garrido, Sergio Aguilera‐Albesa, Miguel Tomás Vila, Itziar Gastón, Marcos Madruga, Luis González Gutiérrez, Julio Ramos Lizana, Montserrat Pujol, Tania Gavilán Iglesias, Kylee Tustin, Jean Pie
    Movement Disorders.2017; 32(11): 1620.     CrossRef
  • Missions of <italic>Journal of Movement Disorders</italic>
    Yun Joong Kim
    Journal of Movement Disorders.2016; 9(1): 1.     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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  • 40 Web of Science
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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

Citations to this article as recorded by  
  • 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
A Case of Painful Hemimasticatory Spasm with Masseter Muscle Hypertrophy Responsive to Botulinum Toxin
Jin-Hyuck Kim, Seok-Won Han, Yun Joong Kim, Jooyong Kim, Mi-Suh Oh, Hyeo-Il Ma, Byung-Chul Lee
J Mov Disord. 2009;2(2):95-97.
DOI: https://doi.org/10.14802/jmd.09026
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AbstractAbstract PDF

Hemimasticatory spasm (HMS) is a rare disorder of the trigeminal nerve characterized by paroxysmal involuntary contractions of the unilateral jaw-closing muscles. HMS has been frequently described in association with facial hemiatrophy or localized scleroderma. A 42-year-old female presented with involuntary paroxysmal spasms of the left face, of 6 months duration. Her lower face on the left was markedly hypertrophied without skin lesions. An electrophysiological study indicated that the masseter reflexes and masseteric silent period were attenuated on the affected side. Surface electromyography demonstrated irregular bursts of motor unit potentials at high frequencies up to 200 Hz. Magnetic resonance imaging of the head showed marked hypertrophy of the left masseter muscle. Biopsy of the hypertrophied masseter muscle was normal. Repeated local injections of botulinum toxin noticeably reduced the size of the hypertrophied muscle as well as improved the patient’s symptoms.

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  • Hemimasticatory spasm: a series of 17 cases and a comprehensive review of the literature
    Kazuya Yoshida
    Frontiers in Neurology.2024;[Epub]     CrossRef
  • Hemimasticatory spasm: possibilities of treatment with injections of botulinum neuroprotein type A (case report)
    L. U. Valieva, A. S. Pankratov, O. R. Orlova
    Neurology, Neuropsychiatry, Psychosomatics.2022; 14(3): 62.     CrossRef
  • Bilateral Hemimasticatory spasm in a patient with hypereosinophilic syndrome
    Kyung Ah Woo, Han-Joon Kim, Hyeyoung Park, Beomseok Jeon
    Parkinsonism & Related Disorders.2021; 93: 55.     CrossRef
  • Hemimasticatory spasm. Own experience of using botulinum neuroprotein type A
    A. N. Korenko, A. V. Amelin, A. A. Timofeeva
    The Scientific Notes of the Pavlov University.2021; 28(3): 47.     CrossRef
  • Parry-Romberg Syndrome With Hemimasticatory Spasm: A Rare Combination
    Guang-can Chen, Min-jie Chen, Wen-bin Wei, Yun-bo Hao
    Journal of Craniofacial Surgery.2020; 31(2): e205.     CrossRef
  • Hemi Masticatory Spasm: Series of 7 Cases and Review of Literature
    Divya M. Radhakrishnan, Vinay Goyal, Garima Shukla, Mamta Bhushan Singh, M. Ramam
    Movement Disorders Clinical Practice.2019; 6(4): 316.     CrossRef
Evaluating the validity and reliability of the Korean version of Scales for Outcomes in Parkinson’s Disease–Cognition
Jinse Park, Eung Seok Oh, Seong-Beom Koh, In-Uk Song, Tae-Beom Ahn, Sang Jin Kim, Sang-Myung Cheon, Yun Joong Kim, Jin Whan Cho, Hyeo-Il Ma, Mee-Young Park, Jong Sam Baik, Phil Hyu Lee, Sun Ju Chung, Jong-Min Kim, Han-Joon Kim, Young-Hee Sung, Do Young Kwon, Jae-Hyeok Lee, Jee-Young Lee, Ji Sun Kim, Ji Young Yun, Hee Jin Kim, Jin Young Hong, Mi-Jung Kim, Jinyoung Youn, Ji Seon Kim, Hui-Jun Yang, Won Tae Yoon, Sooyeoun You, Kyum-Yil Kwon, Su-Yun Lee, Younsoo Kim, Hee-Tae Kim, Joong-Seok Kim, Ji-Young Kim
Received March 8, 2024  Accepted April 2, 2024  Published online April 3, 2024  
DOI: https://doi.org/10.14802/jmd.24061    [Accepted]
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Objective
The Scales for Outcomes in Parkinson’s Disease–Cognition (SCOPA-Cog) was developed to screen for cognition in PD. In this study, we aimed to evaluate the validity and reliability of the Korean version of the SCOPA-cog.
Methods
We recruited 129 PD patients from 31 clinics with movement disorders in South Korea. The original version of the SCOPA-cognition was translated into Korean using the translation-retranslation method. The test-rest method with an intraclass correlation coefficient (ICC) and Cronbach’s alpha coefficient were used to assess reliability. The Spearman’s Rank correlation analysis with Montreal Cognitive Assessment-Korean version (MOCA-K) and Korean Mini-Mental State Examination (K-MMSE) were used to assess concurrent validity.
Results
The Cronbach’s alpha coefficient was 0.797, and the ICC was 0.887. Spearman’s rank correlation analysis showed a significant correlation with the K-MMSE and MOCA-K scores (r = 0.546 and r = 0.683, respectively).
Conclusions
Our results demonstrate that K-SCOPA-Cog exhibits good reliability and validity.
The first East Asian Parkinson’s disease caused by A53E SNCA mutation with early progression to dementia
Yeo Jun Yoon, Chan Wook Park, Jin Ju Kim, Seok Jong Chung, Yun Joong Kim
Received May 17, 2024  Accepted June 13, 2024  Published online June 13, 2024  
DOI: https://doi.org/10.14802/jmd.24118    [Accepted]
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