Journal of Movement Disorders

Yun Joong Kim

12 Articles

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

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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.

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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

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Abstract PDF Supplementary 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.

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

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Abstract 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.

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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;[Epub] 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
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

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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

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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

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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

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Abstract 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.

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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

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Abstract PDF Supplementary 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.

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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
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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
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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
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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
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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
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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
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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
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Peripheral Blood Inflammatory Cytokines in Idiopathic REM Sleep Behavior Disorder
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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

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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

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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
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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
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Luz María González Huerta, Sorina Gómez González, Jaime Toral López
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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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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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5 Citations

Abstract 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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