Journal of Movement Disorders

Beomseok Jeon

26 Articles

Historical and More Common Nongenetic Movement Disorders From Asia: Norlinah Mohamed Ibrahim, Priya Jagota, Pramod Kumar Pal, Roongroj Bhidayasiri, Shen-Yang Lim, Yoshikazu Ugawa, Zakiyah Aldaajani, Beomseok Jeon, Shinsuke Fujioka, Jee-Young Lee, Prashanth Lingappa Kukkle, Huifang Shang, Onanong Phokaewvarangkul, Cid Diesta, Cholpon Shambetova, Chin-Hsien Lin; J Mov Disord. 2023;16(3):248-260. Published online June 9, 2023; DOI: https://doi.org/10.14802/jmd.22224

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Abstract PDF Supplementary Material: Nongenetic movement disorders are common throughout the world. The movement disorders encountered may vary depending on the prevalence of certain disorders across various geographical regions. In this paper, we review historical and more common nongenetic movement disorders in Asia. The underlying causes of these movement disorders are diverse and include, among others, nutritional deficiencies, toxic and metabolic causes, and cultural Latah syndrome, contributed by geographical, economic, and cultural differences across Asia. The industrial revolution in Japan and Korea has led to diseases related to environmental toxin poisoning, such as Minamata disease and β-fluoroethyl acetate-associated cerebellar degeneration, respectively, while religious dietary restriction in the Indian subcontinent has led to infantile tremor syndrome related to vitamin B12 deficiency. In this review, we identify the salient features and key contributing factors in the development of these disorders.

Nine Hereditary Movement Disorders First Described in Asia: Their History and Evolution: Priya Jagota, Yoshikazu Ugawa, Zakiyah Aldaajani, Norlinah Mohamed Ibrahim, Hiroyuki Ishiura, Yoshiko Nomura, Shoji Tsuji, Cid Diesta, Nobutaka Hattori, Osamu Onodera, Saeed Bohlega, Amir Al-Din, Shen-Yang Lim, Jee-Young Lee, Beomseok Jeon, Pramod Kumar Pal, Huifang Shang, Shinsuke Fujioka, Prashanth Lingappa Kukkle, Onanong Phokaewvarangkul, Chin-Hsien Lin, Cholpon Shambetova, Roongroj Bhidayasiri; J Mov Disord. 2023;16(3):231-247. Published online June 13, 2023; DOI: https://doi.org/10.14802/jmd.23065

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Abstract PDF Supplementary Material: Clinical case studies and reporting are important to the discovery of new disorders and the advancement of medical sciences. Both clinicians and basic scientists play equally important roles leading to treatment discoveries for both cures and symptoms. In the field of movement disorders, exceptional observation of patients from clinicians is imperative, not just for phenomenology but also for the variable occurrences of these disorders, along with other signs and symptoms, throughout the day and the disease course. The Movement Disorders in Asia Task Force (TF) was formed to help enhance and promote collaboration and research on movement disorders within the region. As a start, the TF has reviewed the original studies of the movement disorders that were preliminarily described in the region. These include nine disorders that were first described in Asia: Segawa disease, PARK-Parkin, X-linked dystonia-parkinsonism, dentatorubral-pallidoluysian atrophy, Woodhouse-Sakati syndrome, benign adult familial myoclonic epilepsy, Kufor-Rakeb disease, tremulous dystonia associated with mutation of the calmodulin-binding transcription activator 2 gene, and paroxysmal kinesigenic dyskinesia. We hope that the information provided will honor the original researchers and help us learn and understand how earlier neurologists and basic scientists together discovered new disorders and made advances in the field, which impact us all to this day.

Absence of Alpha-Synuclein Pathology in the Stomach of a Patient With Prodromal Dementia With Lewy Bodies: Chaewon Shin, Seong-Ik Kim, Sung-Hye Park, Jung Hwan Shin, Chan Young Lee, Han-Joon Kim, Hyuk-Joon Lee, Seong-Ho Kong, Yun-Suhk Suh, Han-Kwang Yang, Beomseok Jeon; J Mov Disord. 2023;16(2):213-216. Published online April 26, 2023; DOI: https://doi.org/10.14802/jmd.22219

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Investigation of the Long-Term Effects of Amantadine Use in Parkinson’s Disease: Sangmin Park, Jung Hwan Shin, Seung Ho Jeon, Chan Young Lee, Han-Joon Kim, Beomseok Jeon; J Mov Disord. 2023;16(2):224-226. Published online May 24, 2023; DOI: https://doi.org/10.14802/jmd.23037

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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; J Mov Disord. 2023;16(1):52-54. Published online November 10, 2022; DOI: https://doi.org/10.14802/jmd.22085

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Semiautomated Algorithm for the Diagnosis of Multiple System Atrophy With Predominant Parkinsonism: Woong-Woo Lee, Han-Joon Kim, Hong Ji Lee, Han Byul Kim, Kwang Suk Park, Chul-Ho Sohn, Beomseok Jeon; J Mov Disord. 2022;15(3):232-240. Published online July 26, 2022; DOI: https://doi.org/10.14802/jmd.21178

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Abstract PDF Supplementary Material: Objective
Putaminal iron deposition is an important feature that helps differentiate multiple system atrophy with predominant parkinsonism (MSA-p) from Parkinson’s disease (PD). Most previous studies used visual inspection or quantitative methods with manual manipulation to perform this differentiation. We investigated the value of a new semiautomated diagnostic algorithm using 3T-MR susceptibility-weighted imaging for MSA-p.
Methods
This study included 26 MSA-p, 68 PD, and 41 normal control (NC) subjects. The algorithm was developed in 2 steps: 1) determine the image containing the remarkable putaminal margin and 2) calculate the phase-shift values, which reflect the iron concentration. The next step was to identify the best differentiating conditions among several combinations. The highest phaseshift value of each subject was used to assess the most effective diagnostic set.
Results
The raw phase-shift values were present along the lateral margin of the putamen in each group. It demonstrates an anterior- to-posterior gradient that was identified most frequently in MSA-p. The average of anterior 5 phase shift values were used for normalization. The highest area under the receiver operating characteristic curve (0.874, 80.8% sensitivity, and 86.7% specificity) of MSA-p versus PD was obtained under the combination of 3 or 4 vertical pixels and one dominant side when the normalization methods were applied. In the subanalysis for the MSA-p patients with a longer disease duration, the performance of the algorithm improved.
Conclusion
This algorithm detected the putaminal lateral margin well, provided insight into the iron distribution of the putaminal rim of MSA-p, and demonstrated good performance in differentiating MSA-p from PD.

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; J Mov Disord. 2022;15(3):241-248. Published online July 26, 2022; DOI: https://doi.org/10.14802/jmd.22002

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Objective
To investigate the long-term clinical outcomes of pallidal deep brain stimulation (GPi-DBS) in patients with pantothenate kinase-associated neurodegeneration (PKAN).
Methods
We reviewed the records of patients with genetically confirmed PKAN who received bilateral GPi-DBS for refractory dystonia and were clinically followed up for at least 2 years postoperatively at two centers in Korea. Pre- and postoperative Burke– Fahn–Marsden Dystonia Rating Scale motor subscale (BFMDRS-M) scores, disability subscale (BFMDRS-D) scores, and qualitative clinical information were prospectively collected. Descriptive analysis was performed for BFMDRS-M scores, BFMDRSD scores, and the orofacial, axial, and limb subscores of the BFMDRS-M at 6–12, 24–36, and 60–72 months postoperatively.
Results
Five classic-type, four atypical-type, and one unknown-type PKAN cases were identified. The mean preoperative BFMDRS-M score was 92.1 for the classic type and 38.5 for the atypical or unknown type, with a mean BFMDRS follow-up of 50.7 months and a clinical follow-up of 69.0 months. The mean improvements in BFMDRS-M score were 11.3%, 41.3%, and 30.5% at 6–12, 24–36, and 60–72 months, respectively. In four patients with full regular evaluations until 60–72 months, improvements in the orofacial, axial, and limb subscores persisted, but the disability scores worsened from 24–36 months post-operation compared to the baseline, mainly owing to the aggravation of eating and feeding disabilities.
Conclusion
The benefits of GPi-DBS on dystonia may persist for more than 5 years in PKAN. The effects on patients’ subjective disability may have a shorter duration despite improvements in dystonia owing to the complex manifestations of PKAN.

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Surgical treatment of movement disorders in neurometabolic conditions
Alonso Zea Vera, Andrea L. Gropman
Frontiers in Neurology.2023;[Epub] CrossRef
Deep Brain Stimulation for Refractory Status Dystonicus in Children: Multicenter Case Series and Systematic Review
Lindsey M. Vogt, Han Yan, Brendan Santyr, Sara Breitbart, Melanie Anderson, Jürgen Germann, Karlo J. Lizarraga, Angela L. Hewitt, Alfonso Fasano, George M. Ibrahim, Carolina Gorodetsky
Annals of Neurology.2023;[Epub] CrossRef

Sensitivity of Detecting Alpha-Synuclein Accumulation in the Gastrointestinal Tract and Tissue Volume Examined: Chaewon Shin, Seong-Ik Kim, Sung-Hye Park, Jung Hwan Shin, Chan Young Lee, Han-Kwang Yang, Hyuk-Joon Lee, Seong-Ho Kong, Yun-Suhk Suh, Han-Joon Kim, Beomseok Jeon; J Mov Disord. 2022;15(3):264-268. Published online July 26, 2022; DOI: https://doi.org/10.14802/jmd.22042

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Abstract PDF Supplementary Material: Objective
This study aimed to evaluate whether a larger tissue volume increases the sensitivity of detecting alpha-synuclein (AS) pathology in the gastrointestinal (GI) tract.
Methods
Nine patients with Parkinson’s disease (PD) or idiopathic rapid eye movement sleep disorder (iRBD) who underwent GI operation and had full-depth intestinal blocks were included. All patients were selected from our previous study population. A total of 10 slides (5 serial sections from the proximal and distal blocks) per patient were analyzed.
Results
In previous studies, pathologic evaluation revealed phosphorylated AS (+) in 5/9 patients (55.6%) and in 1/5 controls (20.0%); in this extensive examination, this increased to 8/9 patients (88.9%) but remained the same in controls (20.0%). The severity and distribution of positive findings were similar between patients with iRBD and PD.
Conclusion
Examining a large tissue volume increased the sensitivity of detecting AS accumulation in the GI tract.

Automatic Measurement of Postural Abnormalities With a Pose Estimation Algorithm in Parkinson’s Disease: Jung Hwan Shin, Kyung Ah Woo, Chan Young Lee, Seung Ho Jeon, Han-Joon Kim, Beomseok Jeon; J Mov Disord. 2022;15(2):140-145. Published online January 19, 2022; DOI: https://doi.org/10.14802/jmd.21129

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Abstract PDF Supplementary Material

Objective
This study aims to develop an automated and objective tool to evaluate postural abnormalities in Parkinson’s disease (PD) patients.
Methods
We applied a deep learning-based pose-estimation algorithm to lateral photos of prospectively enrolled PD patients (n = 28). We automatically measured the anterior flexion angle (AFA) and dropped head angle (DHA), which were validated with conventional manual labeling methods.
Results
The automatically measured DHA and AFA were in excellent agreement with manual labeling methods (intraclass correlation coefficient > 0.95) with mean bias equal to or less than 3 degrees.
Conclusion
The deep learning-based pose-estimation algorithm objectively measured postural abnormalities in PD patients.

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Three‐Dimensional Mesh Recovery from Common 2‐Dimensional Pictures for Automated Assessment of Body Posture in Camptocormia
Robin Wolke, Olga Gavriliuc, Oliver Granert, Günther Deuschl, Nils G. Margraf
Movement Disorders Clinical Practice.2023; 10(3): 472. CrossRef
Assessment of Axial Postural Abnormalities in Parkinsonism: Automatic Picture Analysis Software
Carlo Alberto Artusi, Christian Geroin, Gabriele Imbalzano, Serena Camozzi, Stefano Aldegheri, Leonardo Lopiano, Michele Tinazzi, Nicola Bombieri
Movement Disorders Clinical Practice.2023; 10(4): 636. CrossRef
Camera- and Viewpoint-Agnostic Evaluation of Axial Postural Abnormalities in People with Parkinson’s Disease through Augmented Human Pose Estimation
Stefano Aldegheri, Carlo Alberto Artusi, Serena Camozzi, Roberto Di Marco, Christian Geroin, Gabriele Imbalzano, Leonardo Lopiano, Michele Tinazzi, Nicola Bombieri
Sensors.2023; 23(6): 3193. CrossRef

Development of Clinical Milestones in Parkinson’s Disease After Bilateral Subthalamic Deep Brain Stimulation: Jed Noel A. Ong, Jung Hwan Shin, Seungho Jeon, Chan Young Lee, Han-Joon Kim, Sun Ha Paek, Beomseok Jeon; J Mov Disord. 2022;15(2):124-131. Published online May 26, 2022; DOI: https://doi.org/10.14802/jmd.21106

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Abstract PDF Supplementary Material: Objective
Deep brain stimulation of the subthalamic nucleus (STN-DBS) in Parkinson’s disease (PD) patients does not halt disease progression, as these patients will progress and develop disabling non-levodopa responsive symptoms. These features may act as milestones that represent the overall functionality of patients after DBS. The objective of this study was to investigate the development of clinical milestones in advanced PD patients who underwent bilateral STN-DBS.
Methods
The study evaluated PD patients who underwent STN-DBS at baseline up to their last follow-up using the Unified Parkinson’s Disease Rating Scale and Hoehn and Yahr scale. The symptoms of hallucinations, dysarthria, dysphagia, frequent falls, difficulty walking, cognitive impairment and the loss of autonomy were chosen as the clinical milestones.
Results
A total of 106 patients with a mean age of 47.21 ± 10.52 years at disease onset, a mean age of 58.72 ± 8.74 years at surgery and a mean disease duration of 11.51 ± 4.4 years before surgery were included. Initial improvement of motor symptoms was seen after the surgery with the appearance of clinical milestones over time. Using the moderately disabling criteria, 81 patients (76.41%) developed at least one clinical milestone, while 48 patients (45.28%) developed a milestone when using the severely disabling criteria.
Conclusion
STN-DBS has a limited effect on axial and nonmotor symptoms of the PD patients, in contrast to the effect on motor symptoms. These symptoms may serve as clinical milestones that can convey the status of PD patients and its impact on the patients and their caregivers. Therefore, advanced PD patients, even those treated with bilateral STN-DBS, will still require assistance and cannot live independently in the long run.

Investigation of Nocturnal Hypokinesia and Health-Related Quality of Life in Parkinsonian Patients with the Korean Version of the Nocturnal Hypokinesia Questionnaire: Ji-Hyun Choi, Jee-Young Lee, Chaewon Shin, Dallah Yoo, Jin Hee Im, Kyung Ah Woo, Han-Joon Kim, Tae-Beom Ahn, Jong-Min Kim, Beomseok Jeon; J Mov Disord. 2021;14(3):221-225. Published online May 26, 2021; DOI: https://doi.org/10.14802/jmd.20172

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Abstract PDF Supplementary Material

Objective
To assess nocturnal hypokinesia using the Korean version of the Nocturnal Hypokinesia Questionnaire (NHQ-K) in Parkinson’s disease (PD) patients across disease stages.
Methods
We developed the NHQ-K and performed questionnaire-based interviews with 108 PD patients from three referral hospitals. Clinical associations of nocturnal hypokinesia and its impact on health-related quality of life (HRQoL) were also analyzed.
Results
The NHQ-K showed acceptable internal consistency (0.83) and interrater reliability (0.95). Nocturnal hypokinesia significantly affected HRQoL in PD patients at both the early and advanced stages (adjusted p < 0.001). Increased severity of nocturnal hypokinesia was associated with dyskinesias, off-period disability, apathy, and anxious mood in PD patients (adjusted p < 0.01) after controlling for disease severity and medication dose.
Conclusion
The NHQ-K is useful for screening nocturnal hypokinesia in PD patients. Given the high impact of nocturnal hypokinesia on HRQoL, comprehensive management of nocturnal disability is needed for PD patients.

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Technological evaluation of strategies to get out of bed by people with Parkinson's disease: Insights from multisite wearable sensors
Jirada Sringean, Chusak Thanawattano, Roongroj Bhidayasiri
Frontiers in Medical Technology.2022;[Epub] CrossRef

Young-Onset Parkinson’s Disease with Impulse Control Disorder Due to Novel Variants of F-Box Only Protein 7: Dallah Yoo, Ji-Hyun Choi, Jin-Hee Im, Man Jin Kim, Han-Joon Kim, Sung Sup Park, Beomseok Jeon; J Mov Disord. 2020;13(3):225-228. Published online September 9, 2020; DOI: https://doi.org/10.14802/jmd.20026

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Abstract PDF

F-box only protein 7 (FBXO7) is a rare monogenic cause of hereditary Parkinson’s disease (PD) with an autosomal recessive mode of inheritance and a broad spectrum of clinical manifestations. Here, we report a de novo PD patient with onset at the age of 28 with novel compound heterozygous variants in the FBXO7 gene (c.1162C>T, p.Gln388X; c.80G>A, p.Arg27His). The clinical features of the patient were problematic impulse control disorder behaviors and pyromania, and pyramidal signs were negative. We describe the novel pathogenic variants of the FBXO7 gene with detailed clinical pictures to report the expanding genotypes and phenotypes of FBXO7-associated parkinsonism.

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Loss of the parkinsonism‐associated protein FBXO7 in glutamatergic forebrain neurons in mice leads to abnormal motor behavior and synaptic defects
Jingbo Wang, Sabitha Joseph, Siv Vingill, Ekrem Dere, Lars Tatenhorst, Anja Ronnenberg, Paul Lingor, Christian Preisinger, Hannelore Ehrenreich, Jörg B. Schulz, Judith Stegmüller
Journal of Neurochemistry.2023; 167(2): 296. CrossRef
Nearly Abolished Dopamine Transporter Uptake in a Patient With a Novel FBXO7 Mutation
Eun Young Kim, Seon Young Kim, Youngduk Seo, Chaewon Shin
Journal of Movement Disorders.2022; 15(3): 269. CrossRef

A Rare Case of Late Adult-Onset Niemann-Pick Disease Type C: Ryul Kim, Dallah Yoo, Sangmin Park, Jung Hwan Shin, Ji-Hyun Choi, Han-Joon Kim, Beomseok Jeon; J Mov Disord. 2020;13(2):163-165. Published online March 18, 2020; DOI: https://doi.org/10.14802/jmd.19077

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Genetic and phenotypic variability in adult patients with Niemann Pick type C from Serbia: single-center experience
Nikola Kresojević, Valerija Dobričić, Milica Ječmenica Lukić, Aleksandra Tomić, Igor Petrović, Nataša Dragašević, Ivana Perović, Ana Marjanović, Marija Branković, Milena Janković, Ivana Novaković, Marina Svetel, Vladimir S. Kostić
Journal of Neurology.2022; 269(6): 3167. CrossRef
Two Patients with Niemann Pick Disease Type C Diagnosed in the Seventh Decade of Life
Melanie Wu, Rita Ceponiene, Ece Bayram, Irene Litvan
Movement Disorders Clinical Practice.2020; 7(8): 961. CrossRef

Immunotherapy Targeting Neurodegenerative Proteinopathies: α-Synucleinopathies and Tauopathies: Junghwan Shin, Han-Joon Kim, Beomseok Jeon; J Mov Disord. 2020;13(1):11-19. Published online December 19, 2019; DOI: https://doi.org/10.14802/jmd.19057

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Abstract PDF

α-Synuclein and tau deposition in the central nervous system is responsible for various parkinsonian syndromes, including Parkinson’s disease, multiple system atrophy, dementia with Lewy bodies, progressive supranuclear palsy and corticobasal degeneration. Emerging evidence has suggested that pathologic α-synuclein and tau are transmitted from cell to cell and further accelerate the aggregation of pathologic proteins in neighboring cells. Furthermore, extracellular pathologic proteins have also been reported to provoke inflammatory responses that lead to neurodegeneration. Therefore, immunotherapies targeting extracellular α-synuclein and tau have been proposed as potential disease-modifying strategies. In this review, we summarize completed phase I trials and ongoing phase II trials of immunotherapies against α-synuclein and tau and further discuss concerns and hurdles to overcome in the future.

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Modeling the dynamics of innate and adaptive immune response to Parkinson's disease with immunotherapy
Salma M. Al-Tuwairqi, Asma A. Badrah
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Winston T. Chu, Jesse Hall, Anjela Gurrala, Alexander Becsey, Shreya Raman, Michael S. Okun, Catherine T. Flores, Benoit I. Giasson, David E. Vaillancourt, Vinata Vedam-Mai
ACS Chemical Neuroscience.2023; 14(2): 235. CrossRef
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Georg Krainer, Kadi L. Saar, William E. Arter, Timothy J. Welsh, Magdalena A. Czekalska, Raphaël P. B. Jacquat, Quentin Peter, Walther C. Traberg, Arvind Pujari, Akhila K. Jayaram, Pavankumar Challa, Christopher G. Taylor, Lize-Mari van der Linden, Titus
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Marta Leńska-Mieciek, Natalia Madetko-Alster, Piotr Alster, Leszek Królicki, Urszula Fiszer, Dariusz Koziorowski
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Immunisation with UB-312 in the Thy1SNCA mouse prevents motor performance deficits and oligomeric α-synuclein accumulation in the brain and gut
Jacqui T. Nimmo, Harry Smith, Chang Yi Wang, Jessica L. Teeling, James A. R. Nicoll, Ajay Verma, Jean-Cosme Dodart, Zhi Liu, Feng Lin, Roxana O. Carare
Acta Neuropathologica.2022; 143(1): 55. CrossRef
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Changyoun Kim, Armine Hovakimyan, Karen Zagorski, Tatevik Antonyan, Irina Petrushina, Hayk Davtyan, Gor Chailyan, Jonathan Hasselmann, Michiyo Iba, Anthony Adame, Edward Rockenstein, Marcell Szabo, Mathew Blurton-Jones, David H. Cribbs, Anahit Ghochikyan,
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Evidence of Inflammation in Parkinson’s Disease and Its Contribution to Synucleinopathy
Thuy Thi Lai, Yun Joong Kim, Hyeo-il Ma, Young Eun Kim
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Slowing Parkinson’s Disease Progression with Vaccination and Other Immunotherapies
Dhanya Vijayakumar, Joseph Jankovic
CNS Drugs.2022; 36(4): 327. CrossRef
Amyloid β, Tau, and α-Synuclein aggregates in the pathogenesis, prognosis, and therapeutics for neurodegenerative diseases
Urmi Sengupta, Rakez Kayed
Progress in Neurobiology.2022; 214: 102270. CrossRef
Modeling the dynamics of innate immune response to Parkinson disease with therapeutic approach
Asma Badrah, Salma Al-Tuwairqi
Physical Biology.2022; 19(5): 056004. CrossRef
Potential of food-derived bioactive peptides in alleviation and prevention of Alzheimer's disease
Le Zhao, Dan Li, Xiaofen Qi, Kaifang Guan, Haoran Chen, Rongchun Wang, Ying Ma
Food & Function.2022; 13(21): 10851. CrossRef
Harnessing the immune system for the treatment of Parkinson’s disease
Vinata Vedam-Mai
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The Contribution of Microglia to Neuroinflammation in Parkinson’s Disease
Katja Badanjak, Sonja Fixemer, Semra Smajić, Alexander Skupin, Anne Grünewald
International Journal of Molecular Sciences.2021; 22(9): 4676. CrossRef
Viral alpha-synuclein knockdown prevents spreading synucleinopathy
Sindhu Menon, Rikke H Kofoed, Fadl Nabbouh, Kristiana Xhima, Yasmeen Al-Fahoum, Tammy Langman, Howard T J Mount, Lamya S Shihabuddin, S Pablo Sardi, Paul E Fraser, Joel C Watts, Isabelle Aubert, Anurag Tandon
Brain Communications.2021;[Epub] CrossRef
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Somin Kwon, Michiyo Iba, Changyoun Kim, Eliezer Masliah
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Kyu-Young Sim, Kyeong Chan Im, Sung-Gyoo Park
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Novel antibodies detect additional α-synuclein pathology in synucleinopathies: potential development for immunotherapy
Jacqui T. Nimmo, Ajay Verma, Jean-Cosme Dodart, Chang Yi Wang, Jimmy Savistchenko, Ronald Melki, Roxana O. Carare, James A. R. Nicoll
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Brainstem-Predominant Lewy-Related Pathology in a Patient with Parkinson’s Disease without Dementia: Ji-Hyun Choi, Sung-Hye Park, Sung Sup Park, Beomseok Jeon; J Mov Disord. 2020;13(1):74-76. Published online December 19, 2019; DOI: https://doi.org/10.14802/jmd.19059

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Morphological differences between the two major subtypes of multiple system atrophy with cognitive impairment
Kurt A. Jellinger
Parkinsonism & Related Disorders.2023; 107: 105273. CrossRef
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Kurt A. Jellinger
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Successful Pallidal Deep Brain Stimulation in a Patient with Childhood-Onset Generalized Dystonia with ANO3 Mutation: Dallah Yoo, Han-Joon Kim, Jong-Hee Chae, Sun Ha Paek, Beomseok Jeon; J Mov Disord. 2019;12(3):190-191. Published online July 17, 2019; DOI: https://doi.org/10.14802/jmd.19016

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A novel ANO3 variant in two siblings with different phenotypes
Marcello Esposito, Assunta Trinchillo, Francesca Piceci-Sparascio, Maria Cecilia D'Asdia, Federica Consoli, Alessandro De Luca
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Stephen Tisch, Kishore Raj Kumar
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Huntington disease-like phenotype in a patient with ANO3 mutation
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Arching deep brain stimulation in dystonia types
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Nonmotor and Dopamine Transporter Change in REM Sleep Behavior Disorder by Olfactory Impairment: Jee-Young Lee, Eun Jin Yoon, Yu Kyeong Kim, Chae Won Shin, Hyunwoo Nam, Jae Min Jeong, Han-Joon Kim, Beomseok Jeon; J Mov Disord. 2019;12(2):103-112. Published online May 30, 2019; DOI: https://doi.org/10.14802/jmd.18061

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Abstract PDF Supplementary Material

Objective
It is unclear whether the decline in dopamine transporters (DAT) differs among idiopathic rapid eye movement sleep behavior disorder (iRBD) patients with different levels of olfactory impairment. This study aimed to characterize DAT changes in relation to nonmotor features in iRBD patients by olfactory loss.
Methods
This prospective cohort study consisted of three age-matched groups: 30 polysomnography-confirmed iRBD patients, 30 drug-naïve Parkinson’s disease patients, and 19 healthy controls without olfactory impairment. The iRBD group was divided into two groups based on olfactory testing results. Participants were evaluated for reported prodromal markers and then underwent 18F-FP-CIT positron emission tomography and 3T MRI. Tracer uptakes were analyzed in the caudate, anterior and posterior putamen, substantia nigra, and raphe nuclei.
Results
Olfactory impairment was defined in 38.5% of iRBD patients. Mild parkinsonian signs and cognitive functions were not different between the two iRBD subgroups; however, additional prodromal features, constipation, and urinary and sexual dysfunctions were found in iRBD patients with olfactory impairment but not in those without. Tracer uptake showed significant group differences in all brain regions, except the raphe nuclei. The iRBD patients with olfactory impairment had uptake reductions in the anterior and posterior putamen, caudate, and substantia nigra (p < 0.016 in all, adjusted for age), which ranged from 0.6 to 0.8 of age-normative values. In contrast, those without olfactory impairment had insignificant changes in all regions ranging above 0.8.
Conclusion
There was a clear distinction in DAT loss and nonmotor profiles by olfactory status in iRBD.

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Caterina Leitner, Giada D’Este, Laura Verga, Shady Rahayel, Samantha Mombelli, Marco Sforza, Francesca Casoni, Marco Zucconi, Luigi Ferini-Strambi, Andrea Galbiati
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Neurological Sciences.2023; 44(9): 3161. CrossRef
Neurofilament light chain and cardiac MIBG uptake as predictors for phenoconversion in isolated REM sleep behavior disorder
Don Gueu Park, Ju Yeong Kim, Min Seung Kim, Mi Hee Kim, Young-Sil An, Jaerak Chang, Jung Han Yoon
Journal of Neurology.2023; 270(9): 4393. CrossRef
Longitudinal evolution of cortical thickness signature reflecting Lewy body dementia in isolated REM sleep behavior disorder: a prospective cohort study
Jung Hwan Shin, Heejung Kim, Yu Kyeong Kim, Eun Jin Yoon, Hyunwoo Nam, Beomseok Jeon, Jee-Young Lee
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Brain olfactory‐related atrophy in isolated rapid eye movement sleep behavior disorder
Kyung Ah Woo, Heejung Kim, Eun Jin Yoon, Jung Hwan Shin, Hyunwoo Nam, Beomseok Jeon, Yu Kyeong Kim, Jee‐Young Lee
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Florence Baert, Geertrui Vlaemynck, Jarissa Maselyne, Christophe Matthys, Seyed-Mohammad Fereshtehnejad
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Brain Metabolic Correlates of Dopaminergic Denervation in Prodromal and Early Parkinson's Disease
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Musculoskeletal Problems Affect the Quality of Life of Patients with Parkinson’s Disease: Young Eun Kim, Han-Joon Kim, Ji Young Yun, Woong-Woo Lee, Hui-Jun Yang, Jong-Min Kim, Beomseok Jeon; J Mov Disord. 2018;11(3):133-138. Published online September 30, 2018; DOI: https://doi.org/10.14802/jmd.18022

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Abstract PDF

Objective
Musculoskeletal problems are more common in patients with Parkinson’s disease (PD) than in normal elderly, but the impact of musculoskeletal problems on health-related quality of life (HRQoL) in patients with PD is unknown.
Methods
Four hundred consecutive patients with PD were enrolled for the evaluation of musculoskeletal problems and HRQoL. HRQoL was assessed by the 36-Item Short Form Health Survey, which comprised physical health and mental health.
Results
Of the total patients, 265 patients had musculoskeletal problems, and 135 patients did not have musculoskeletal problems. Patients with musculoskeletal problems reported lower levels of HRQoL in terms of physical health than did patients without musculoskeletal problems (p < 0.05). In women, all components of physical health were lower in patients with musculoskeletal problems than in patients without musculoskeletal problems (p < 0.05). Meanwhile, in men, only the bodily pain score of physical health was lower in patients with musculoskeletal problems than in patients without musculoskeletal problems. Mental health and physical health were negatively correlated with depression, Unified Parkinson’s Disease Rating Scale I & II scores, and pain severity from musculoskeletal problems, in that order (p < 0.01 for all).
Conclusion
These results suggest that musculoskeletal problems in patients with PD affect HRQoL significantly, mainly in terms of physical health rather than mental health and especially in women rather than men. Musculoskeletal problems should not be overlooked in the care of patients with PD.

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Total knee arthroplasty in patients with Parkinson’s disease: A systematic review and meta-analysis protocol
Guangchen Sun, Hui Yu, Jun Cui, Ming Li, Yuefang Ru
Medicine.2022; 101(52): e32315. CrossRef
Quality of life of older adults in two contrasting neighbourhoods in Accra, Ghana
Dominic A. Alaazi, Devidas Menon, Tania Stafinski, Stephen Hodgins, Gian Jhangri
Social Science & Medicine.2021; 270: 113659. CrossRef
The Efficiency of Spa Rehabilitation in Chronic Ischemic Stroke Patients—Preliminary Reports
Bogumiła Pniak, Justyna Leszczak, Jadwiga Kurczab, Aleksandra Krzemińska, Joanna Pięta, Agnieszka Plis, Ewelina Czenczek-Lewandowska, Agnieszka Guzik
Brain Sciences.2021; 11(4): 501. CrossRef
An overview of pain in Parkinson's disease
Yi-Cheng Tai, Chin-Hsien Lin
Clinical Parkinsonism & Related Disorders.2020; 2: 1. CrossRef
Clinical Perspectives of Parkinson's Disease for Ophthalmologists, Otorhinolaryngologists, Cardiologists, Dentists, Gastroenterologists, Urologists, Physiatrists, and Psychiatrists
Ji-Hyun Choi, Jong-Min Kim, Hee Kyung Yang, Hyo-Jung Lee, Cheol Min Shin, Seong Jin Jeong, Won-Seok Kim, Ji Won Han, In-Young Yoon, Yoo Sung Song, Yun Jung Bae
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Parkinson's Disease Is Associated with Increased Complications, Readmission Rates, and Costs of Care after Total Hip Arthroplasty: A Matched-Cohort Analysis
Simon Katz, Kevin B. Marchand, Rushabh M. Vakharia, Hiba Anis, Nipun Sodhi, Nicolas S. Piuzzi, Michael A. Mont, Martin W. Roche
The Journal of Hip Surgery.2020; 4(03): 149. CrossRef
Chronic Pain Treatment Strategies in Parkinson’s Disease
Amber Edinoff, Niro Sathivadivel, Timothy McBride, Allyson Parker, Chikezie Okeagu, Alan D. Kaye, Adam M. Kaye, Jessica S. Kaye, Rachel J. Kaye, Meeta M. Sheth, Omar Viswanath, Ivan Urits
Neurology International.2020; 12(3): 61. CrossRef
Sex-specific effects of subthalamic nucleus stimulation on pain in Parkinson’s disease
Olga Khazen, Marisa DiMarzio, Kelsey Platanitis, Heather C. Grimaudo, Maria Hancu, Miriam M. Shao, Michael D. Staudt, Lucy Maguire, Vishad V. Sukul, Jennifer Durphy, Era K. Hanspal, Octavian Adam, Eric Molho, Julie G. Pilitsis
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Sex differences in the short-term and long-term effects of subthalamic nucleus stimulation in Parkinson's disease
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Parkinsonism & Related Disorders.2019; 68: 73. CrossRef

A Patient with Myotonic Dystrophy Type 1 Presenting as Parkinsonism: Ji-Hyun Choi, Jee-Young Lee, Han-Joon Kim, Beomseok Jeon; J Mov Disord. 2018;11(3):145-148. Published online September 30, 2018; DOI: https://doi.org/10.14802/jmd.18028

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Abstract PDF: The current body of literature contains 5 reports of myotonic dystrophy (DM) with parkinsonism: 4 reports of DM type 2 and 1 report of clinically suspected DM type 1. To date, there have been no genetically proven cases of DM type 1 with parkinsonism. Here, we report the first case of genetically proven DM type 1 and parkinsonism that developed ahead of muscle symptoms with bilateral putaminal, presynaptic dopaminergic deficits on imaging. A 54-year-old female patient presented with bradykinesia, axial and bilateral limb rigidity, stooped posture, and hypomimia, which did not respond to levodopa. At age 56, she developed neck flexion weakness. Examination showed bilateral facial weakness, percussion and grip myotonia, and electromyography confirmed myotonic discharges. A genetic study of DM type 1 showed a DMPK mutation. At age 58, gait freezing, postural instability, and frequent falling developed and did not respond to increasing doses of levodopa. At age 59, the patient died from asphyxia.

Amantadine and the Risk of Dyskinesia in Patients with Early Parkinson’s Disease: An Open-Label, Pragmatic Trial: Aryun Kim, Young Eun Kim, Ji Young Yun, Han-Joon Kim, Hui-Jun Yang, Woong-Woo Lee, Chae Won Shin, Hyeyoung Park, Yu Jin Jung, Ahro Kim, Yoon Kim, Mihee Jang, Beomseok Jeon; J Mov Disord. 2018;11(2):65-71. Published online May 30, 2018; DOI: https://doi.org/10.14802/jmd.18005

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Abstract PDF Supplementary Material

Objective
We examined whether amantadine can prevent the development of dyskinesia.
Methods
Patients with drug-naïve Parkinson’s disease (PD), younger than 70 years of age and in the early stage of PD (Hoehn and Yahr scale < 3), were recruited from April 2011 to December 2014. The exclusion criteria included the previous use of antiparkinsonian medication, the presence of dyskinesia, significant psychological disorders, and previous history of a hypersensitivity reaction. Patients were consecutively assigned to one of 3 treatment groups in an open label fashion: Group A-1, amantadine first and then levodopa when needed; Group A-2, amantadine first, dopamine agonist when needed, and then levodopa; and Group B, dopamine agonist first and then levodopa when needed. The primary endpoint was the development of dyskinesia, which was analyzed by the Kaplan-Meier survival rate.
Results
A total of 80 patients were enrolled: Group A-1 (n = 27), Group A-2 (n = 27), and Group B (n = 26). Twenty-four patients were excluded from the analysis due to the following: withdrawal of amantadine or dopamine agonist (n = 9), alternative diagnosis (n = 2), withdrawal of consent (n = 1), and breach in the protocol (n = 12). After exclusion, 5 of the 56 (8.93%) patients developed dyskinesia. Patients in Group A-1 and A-2 tended to develop dyskinesia less often than those in Group B (cumulative survival rates of 0.933, 0.929, and 0.700 for A-1, A-2, and B, respectively; p = 0.453).
Conclusion
Amantadine as an initial treatment may decrease the incidence of dyskinesia in patients with drug-naïve PD.

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Investigation of the Long-Term Effects of Amantadine Use in Parkinson’s Disease
Sangmin Park, Jung Hwan Shin, Seung Ho Jeon, Chan Young Lee, Han-Joon Kim, Beomseok Jeon
Journal of Movement Disorders.2023; 16(2): 224. CrossRef
Polypharmazie bei der Behandlung von Parkinsonsymptomen: eine Nutzen-Risiko Abwägung
J. Bedarf, I. Csoti, H. Herbst, P. Urban, D. Woitalla, U. Wüllner
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Role of glutamate receptor complex in the organism. Ligands of NMDA receptors in neurodegenerative processes – a modern state of the problem
Vladimir D. Dergachev, Ekaterina E. Yakovleva, Eugenii R. Bychkov, Levon B. Piotrovskiy, Petr D. Shabanov
Reviews on Clinical Pharmacology and Drug Therapy.2022; 20(1): 17. CrossRef
Effect of glycine transporter 1 inhibition with bitopertin on parkinsonism and L-DOPA induced dyskinesia in the 6-OHDA-lesioned rat
Imane Frouni, Woojin Kang, Dominique Bédard, Sébastien Belliveau, Cynthia Kwan, Shadi Hadj-Youssef, Élodie Bourgeois-Cayer, Leanne Ohlund, Lekha Sleno, Adjia Hamadjida, Philippe Huot
European Journal of Pharmacology.2022; 929: 175090. CrossRef
Amantadine in the treatment of Parkinson’s disease. New opportunities in the context of COVID-19
E.A. Katunina
Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova.2021; 121(4): 101. CrossRef
Current Knowledge on the Background, Pathophysiology and Treatment of Levodopa-Induced Dyskinesia—Literature Review
Michał Hutny, Jagoda Hofman, Aleksandra Klimkowicz-Mrowiec, Agnieszka Gorzkowska
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Sohaila AlShimemeri, Susan H Fox, Naomi P Visanji
Expert Opinion on Emerging Drugs.2020; 25(2): 131. CrossRef
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Michelle Ann C. Sy, Hubert H. Fernandez
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Jing Liu, Fei Xu, Zhiyan Nie, Lei Shao
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Viewpoint: Developing drugs for levodopa‐induced dyskinesia in PD: Lessons learnt, what does the future hold?
Susan H. Fox, Jonathan M. Brotchie
European Journal of Neuroscience.2019; 49(3): 399. CrossRef
Polypharmacy in Parkinson’s disease: risks and benefits with little evidence
I. Csoti, H. Herbst, P. Urban, D. Woitalla, U. Wüllner
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Activation of mGlu2/3 receptors, a novel therapeutic approach to alleviate dyskinesia and psychosis in experimental parkinsonism
Imane Frouni, Adjia Hamadjida, Cynthia Kwan, Dominique Bédard, Vaidehi Nafade, Fleur Gaudette, Stephen G. Nuara, Jim C. Gourdon, Francis Beaudry, Philippe Huot
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Valentina Leta, Peter Jenner, K. Ray Chaudhuri, Angelo Antonini
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Myotonia Congenita Can Be Mistaken as Paroxysmal Kinesigenic Dyskinesia: Aryun Kim, Mihee Jang, Han-Joon Kim, Yoon Kim, Dae-Seong Kim, Jin-Hong Shin, Beomseok Jeon; J Mov Disord. 2018;11(1):49-51. Published online January 23, 2018; DOI: https://doi.org/10.14802/jmd.17056

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Genetic updates on paroxysmal dyskinesias
James Y. Liao, Philippe A. Salles, Umar A. Shuaib, Hubert H. Fernandez
Journal of Neural Transmission.2021; 128(4): 447. CrossRef
A Japanese family with primary familial brain calcification presenting with paroxysmal kinesigenic dyskinesia - A comprehensive mutational analysis-
Akihiko Mitsutake, Takashi Matsukawa, Kristine Joyce L. Porto, Tatsuya Sato, Junko Katsumata, Tomonari Seki, Risa Maekawa, Takuto Hideyama, Masaki Tanaka, Hiroyuki Ishiura, Tatsushi Toda, Shoji Tsuji, Yasushi Shiio
Journal of the Neurological Sciences.2020; 418: 117091. CrossRef
Paroxysmal movement disorders – practical update on diagnosis and management
Claudio M. De Gusmao, Laura Silveira-Moriyama
Expert Review of Neurotherapeutics.2019; 19(9): 807. CrossRef
The study of exercise tests in paroxysmal kinesigenic dyskinesia
Hai-Yan Zhou, Fei-Xia Zhan, Wo-Tu Tian, Chao Zhang, Yan Wang, Ze-Yu Zhu, Xiao-Li Liu, Yang-Qi Xu, Xing-Hua Luan, Xiao-Jun Huang, Sheng-Di Chen, Li Cao
Clinical Neurophysiology.2018; 129(11): 2435. CrossRef

Validation of the Conversion between the Mini-Mental State Examination and Montreal Cognitive assessment in Korean Patients with Parkinson’s Disease: Ryul Kim, Han-Joon Kim, Aryun Kim, Mi-Hee Jang, Hyun Jeong Kim, Beomseok Jeon; J Mov Disord. 2018;11(1):30-34. Published online January 11, 2018; DOI: https://doi.org/10.14802/jmd.17038

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Abstract PDF

Objective
Two conversion tables between the Mini-Mental State Examination (MMSE) and Montreal Cognitive Assessment (MoCA) have recently been established for Parkinson’s disease (PD). This study aimed to validate them in Korean patients with PD and to evaluate whether they could be influenced by educational level.
Methods
A total of 391 patients with PD who undertook both the Korean MMSE and the Korean MoCA during the same session were retrospectively assessed. The mean, median, and root mean squared error (RMSE) of the difference between the true and converted MMSE scores and the intraclass correlation coefficient (ICC) were calculated according to educational level (6 or fewer years, 7–12 years, or 13 or more years).
Results
Both conversions had a median value of 0, with a small mean and RMSE of differences, and a high correlation between the true and converted MMSE scores. In the classification according to educational level, all groups had roughly similar values of the median, mean, RMSE, and ICC both within and between the conversions.
Conclusion
Our findings suggest that both MMSE-MoCA conversion tables are useful instruments for transforming MoCA scores into converted MMSE scores in Korean patients with PD, regardless of educational level. These will greatly enhance the utility of the existing cognitive data from the Korean PD population in clinical and research settings.

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Gaze Scanning at Street Crossings by Pedestrians With Homonymous Hemianopia With and Without Hemispatial Neglect
Shrinivas Pundlik, Matteo Tomasi, Kevin E. Houston, Ayush Kumar, Prerana Shivshanker, Alex R. Bowers, Eli Peli, Gang Luo
Investigative Opthalmology & Visual Science.2023; 64(14): 26. CrossRef
Comparative study of two Chinese versions of Montreal Cognitive Assessment for Screening of Mild Cognitive Impairment
Yu-Yuan Huang, Shu-Xia Qian, Qiao-Bing Guan, Ke-Liang Chen, Qian-Hua Zhao, Jia-Hong Lu, Qi-Hao Guo
Applied Neuropsychology: Adult.2021; 28(1): 88. CrossRef
Conversion between Mini‐Mental State Examination and Montreal Cognitive Assessment scores in older adults undergoing selective surgery using Rasch analysis
Xiaoying Chen, Huangliang Wen, Jinni Wang, Yayan Yi, Jialan Wu, Xiaoyan Liao
Journal of Advanced Nursing.2021; 77(2): 729. CrossRef
Converting from the Montreal Cognitive Assessment to the Mini-Mental State Examination-2
Hwabeen Yang, Daehyuk Yim, Moon Ho Park, Antony Bayer
PLOS ONE.2021; 16(7): e0254055. CrossRef
Validation of Four Methods for Converting Scores on the Montreal Cognitive Assessment to Scores on the Mini-Mental State Examination-2
Sung Hoon Kang, Moon Ho Park
Dementia and Neurocognitive Disorders.2021; 20(4): 41. CrossRef
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Մ.Ա. Իսայան, Հ.Ա. Հովակիմյան, Լ.Վ. Վարդանյան, Ս.Գ. Խաչատրյան, Զ.Դ. Թավադյան
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Spinal Myoclonus Responding to Continuous Intrathecal Morphine Pump: Jung-Eun Ahn, Dallah Yoo, Ki-Young Jung, Jong-Min Kim, Beomseok Jeon, Myung Chong Lee; J Mov Disord. 2017;10(3):158-160. Published online September 12, 2017; DOI: https://doi.org/10.14802/jmd.17023

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Abstract PDF

Spinal myoclonus is a sudden, brief, and involuntary movement of segmental or propriospinal muscle groups. Spinal myoclonus has occasionally been reported in patients undergoing opioid therapy, but the pathophysiology of opioid-induced myoclonus has not been elucidated yet. Here, we present two patients with spinal segmental myoclonus secondary to ischemic and radiation myelopathy. Conventional medications did not help treat persistent myoclonus in both legs. Continuous intrathecal morphine infusion was implanted for pain control in one patient, which relieved spinal myoclonus entirely. This experience led to the application of this method with a second patient, leading to the same gratifying result. Spinal myoclonus reemerged as soon as the morphine pumps were off, which confirmed the therapeutic role of opioids. In contrast to the opioid-induced myoclonus, these cases show a benefit of opioids on spinal myoclonus, which could be explained by synaptic reorganization after pathologic insults in the spinal cord.

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Spinal segmental myoclonus following spinal surgery
Shrikant Pande, Kokcher Ang, May Win Myat, Shermyn Neo, Sivashankar Subramaniam
British Journal of Neurosurgery.2023; 37(3): 393. CrossRef
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Bharath Kumar Surisetti, Shweta Prasad, Vikram Venkappayya Holla, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal
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Need for Registration and Reporting of Acupuncture Trials in Parkinson’s Disease in Korea: Timothy E. Lee, Aryun Kim, Mihee Jang, Beomseok Jeon; J Mov Disord. 2017;10(3):130-134. Published online September 22, 2017; DOI: https://doi.org/10.14802/jmd.17047

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Abstract PDF: Objective
Many people dealing with Parkinson’s disease (PD) turn to complementary and alternative medicine when searching for a cure or relief from symptoms. Acupuncture is widely used in the Korean PD population to alleviate symptoms and in hopes of curing the illness. However, acupuncture use for PD patients has only recently begun to be studied scientifically and is still considered an unproven treatment for PD. Therefore, there is an urgent need for acupuncture to be studied, validated and used for PD. Thus, our study’s aim is to examine how many acupuncture studies in PD are registered and reported in Korea.
Methods
The registries Clinicaltrials.gov and the Clinical Research Information Service (CRIS) and the search engine PubMed were searched to find relevant human clinical studies involving acupuncture therapy in PD patients. We examined the registration of trials, the posting and publication of results, and whether published articles were registered.
Results
In Clinicaltrials.gov, one completed trial was found with published results. In CRIS, one completed trial was found with published results. A total of 6 publications were found in our study: 2 articles were registered, but only 1 had the registered trial number listed in the article.
Conclusion
Acupuncture is popular among the PD population in Korea regardless of its unproven safety and efficacy. Despite the pressing need for clinical trials, the number of studies listed in the registries was small, and only a few publications were registered. More effort and rigor are needed to validate the efficacy and safety of acupuncture for PD.

Survival of Korean Huntington’s Disease Patients: Han-Joon Kim, Chae-Won Shin, Beomseok Jeon, Hyeyoung Park; J Mov Disord. 2016;9(3):166-170. Published online September 21, 2016; DOI: https://doi.org/10.14802/jmd.16022

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Abstract PDF

Objective
The survival of Huntington’s disease (HD) patients is reported to be 15–20 years. However, most studies on the survival of HD have been conducted in patients without genetic confirmation with the possible inclusion of non-HD patients, and all studies have been conducted in Western countries. The survival of patients with HD in East Asia, where its prevalence is 10–50-fold lower compared with Western populations, has not yet been reported.
Methods
Forty-seven genetically confirmed Korean HD patients from independent families were included in this retrospective medical record review study.
Results
The mean age at onset among the 47 patients was 46.1 ± 14.0 years. At the time of data collection, 25 patients had died, and these patients had a mean age at death of 57.8 ± 13.7 years. The Kaplan-Meier estimate of the median survival from onset in the 47 patients was 14.5 years (95% confidence interval: 12.3–16.6). None of the following factors were associated with the survival time in the univariate Cox regression analysis: gender, age at onset, normal CAG repeat size, mutant CAG repeat size, and the absence or presence of non-motor symptoms at onset.
Conclusion
This is the first Asian study on survival in HD patients. Survival in Korean HD patients may be shorter than that reported for Western populations, or at least is in the lower range of expected survival. A larger longitudinal observation study is needed to confirm the results found in this study.

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Caregiver Burden of Patients With Huntington’s Disease in South Korea: Chan Young Lee, Chaewon Shin, Yun Su Hwang, Eungseok Oh, Manho Kim, Hyun Sook Kim, Sun Ju Chung, Young Hee Sung, Won Tae Yoon, Jin Whan Cho, Jae-Hyeok Lee, Han-Joon Kim, Hee Jin Chang, Beomseok Jeon, Kyung Ah Woo, Seong-Beom Koh, Kyum-Yil Kwon, Jangsup Moon, Young Eun Kim, Jee-Young Lee; Received July 19, 2023 Accepted September 8, 2023 Published online September 11, 2023; DOI: https://doi.org/10.14802/jmd.23134 [Epub ahead of print]

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Abstract PDF Supplementary Material: Objective
This is the first prospective cohort study of Huntington’s disease (HD) in Korea. This study aimed to investigate the caregiver burden in relation to the characteristics of patients and caregivers.
Methods
From August 2020 to February 2022, we enrolled patients with HD from 13 university hospitals in Korea. We used the 12-item Zarit Burden Interview (ZBI-12) to evaluate the caregiver burden. We evaluated the clinical associations of the ZBI-12 scores by linear regression analysis and investigated the differences between the low- and high-burden groups.
Results
Sixty-five patients with HD and 45 caregivers were enrolled in this cohort study. The average age at onset of motor symptoms was 49.3 ± 12.3 years, with an average cytosine-adenine-guanine (CAG)n of 42.9 ± 4.0 (38–65). The median ZBI-12 score among our caregivers was 17.6 ± 14.2. A higher caregiver burden was associated with a more severe Shoulson–Fahn stage (p = 0.038) of the patients. A higher ZBI-12 score was also associated with lower independence scale (B = -0.154, p = 0.006) and functional capacity (B = -1.082, p = 0.002) scores of patients. The caregiving duration was longer in the high- than in the low-burden group. Caregivers’ demographics, blood relation, and marital and social status did not affect the burden significantly.
Conclusion
HD patients’ neurological status exerts an enormous impact on the caregiver burden regardless of the demographic or social status of the caregiver. This study emphasizes the need to establish an optimal support system for families dealing with HD in Korea. A future longitudinal analysis could help us understand how disease progression aggravates the caregiver burden throughout the entire disease course.

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