- A Practical Guide for Diagnostic Investigations and Special Considerations in Patients With Huntington’s Disease in Korea
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Jangsup Moon, Eungseok Oh, Minkyeong Kim, Ryul Kim, Dallah Yoo, Chaewon Shin, Jee-Young Lee, Jong-Min Kim, Seong-Beom Koh, Manho Kim, Beomseok Jeon
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J Mov Disord. 2025;18(1):17-30. Published online December 26, 2024
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DOI: https://doi.org/10.14802/jmd.24232
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- This review provides a comprehensive framework for the diagnostic approach and management of Huntington’s disease (HD) tailored to the Korean population. Key topics include genetic counseling, predictive testing, and reproductive options like preimplantation genetic testing. Strategies for assessing disease progression in premanifest HD through laboratory investigations, biofluid, and imaging biomarkers are highlighted. Special considerations for juvenile and late-onset HD, along with associated comorbidities like diabetes mellitus, hypertension, and cardiovascular abnormalities, are discussed. The guide emphasizes personalized symptom management, including pharmacotherapy, physical therapy, and nutritional support, while exploring emerging disease-modifying treatments. A multidisciplinary care model is advocated to improve outcomes for HD patients and caregivers in Korea.
- Effect of Positional Changes on Cerebral Perfusion in Parkinson’s Disease Patients With Orthostatic Hypotension
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Jae Young Joo, Dallah Yoo, Jae-Myoung Kim, Chaewon Shin, Tae-Beom Ahn
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J Mov Disord. 2024;17(4):408-415. Published online September 9, 2024
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DOI: https://doi.org/10.14802/jmd.24104
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1,713
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 Supplementary Material
- Objective
Orthostatic hypotension (OH) is one of the most common autonomic dysfunctions in Parkinson’s disease (PD) patients. However, many patients with OH are asymptomatic. Conversely, orthostatic dizziness (OD) is not always associated with OH. We investigated the effects of positional changes on cerebral perfusion in patients with PD and OH.
Methods
We enrolled 42 patients, comprising 31 PD patients and 11 healthy controls. All the subjects underwent the following clinical assessments: the OH questionnaire, head-up tilt test (HUTT) with transcranial Doppler (TCD), near-infrared spectroscopy, measurement of the change in oxygenated hemoglobin (ΔHboxy) during the squat-to-stand test (SST), measurement of the time derivative of total hemoglobin (DHbtot), and time taken to reach the peak (peak time [PT]) of DHbtot after restanding.
Results
The mean flow velocity change (ΔMFV) in the TCD during the HUTT failed to differentiate between the PD-OH(+) and PD-OH(-) groups. The change in oxygenated hemoglobin ΔHboxy was greater in the PD-OH(+) group, which persisted for 9 min until the end of the HUTT only in the left hemisphere. During SST, PT was significantly delayed in the left hemisphere in PD-OH(+) patients.
Conclusion
Although TCD demonstrated no significant difference in ΔMFV, the parameters measured by near-infrared spectroscopy, such as ΔHboxy during HUTT and PT during the SST, significantly increased ΔHboxy or delayed PT in the left hemisphere of PD-OH(+). Positional changes have a detrimental effect on cerebral hemodynamics in patients with PD and OH, especially in the left hemisphere.
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Citations
Citations to this article as recorded by  - The current state of wearable device use in Parkinson's disease: a survey of individuals with Parkinson's
Siegfried Hirczy, Cyrus Zabetian, Yi-Han Lin
Frontiers in Digital Health.2024;[Epub] CrossRef
- Trends in Physiotherapy Interventions and Medical Costs for Parkinson’s Disease in South Korea, 2011–2020
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Dong-Woo Ryu, Jinse Park, Myung Jun Lee, Dallah Yoo, Sang-Myung Cheon
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J Mov Disord. 2024;17(3):270-281. Published online March 19, 2024
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DOI: https://doi.org/10.14802/jmd.23269
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PDFSupplementary Material
- Objective
Physiotherapy (PT), which is an effective strategy for managing Parkinson’s disease (PD), can influence health care utilization. We analyzed trends in health care utilization, PT interventions, and medical costs among patients with PD.
Methods
Using data from the Korean National Health Insurance Service from 2011 to 2020, we analyzed the number of patients with PD and their health care utilization and assessed the odds ratio (OR) for receiving regular PTs.
Results
Over 10 years, 169,613 patients with PD were included in the analysis. The number of patients with PD increased annually from 49,417 in 2011 to 91,841 in 2020. The number of patients with PD receiving PT increased from 4,847 (9.81%) in 2011 to 13,163 (14.33%) in 2020, and the number of PT prescriptions increased from 81,220 in 2011 to 377,651 in 2019. Medical costs per patient with PD increased from 1,686 United States dollars (USD) in 2011 to 3,202 USD in 2020. The medical expenses for each patient with PD receiving PT increased from 6,582 USD in 2011 to 13,475 USD in 2020. Moreover, regular PTs were administered to 31,782 patients (18.74%) and were administered only through hospitalization. Those patients in their 50s with disabilities demonstrated a high OR for regular PTs, whereas those aged 80 years or older and residing outside of Seoul had a low OR.
Conclusion
The PD burden increased in South Korea between 2011 and 2020, as did health care utilization and medical costs. A significant increase in medical expenses can be associated with increased PD incidence and PT interventions. Regular PT applications remain restricted and have barriers to access.
- A Practical Guide for Clinical Approach to Patients With Huntington’s Disease in Korea
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Chaewon Shin, Ryul Kim, Dallah Yoo, Eungseok Oh, Jangsup Moon, Minkyeong Kim, Jee-Young Lee, Jong-Min Kim, Seong-Beom Koh, Manho Kim, Beomseok Jeon
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J Mov Disord. 2024;17(2):138-149. Published online March 12, 2024
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DOI: https://doi.org/10.14802/jmd.24040
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5,018
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Citations to this article as recorded by - A Practical Guide for Diagnostic Investigations and Special Considerations in Patients With Huntington’s Disease in Korea
Jangsup Moon, Eungseok Oh, Minkyeong Kim, Ryul Kim, Dallah Yoo, Chaewon Shin, Jee-Young Lee, Jong-Min Kim, Seong-Beom Koh, Manho Kim, Beomseok Jeon
Journal of Movement Disorders.2025; 18(1): 17. CrossRef
- Absence of Alpha-Synuclein Aggregation in Patients With Parkinson’s Disease Complicated by Sigmoid Volvulus
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Dallah Yoo, Jae Young Joo, Sung-Hye Park, Sun Jin Park, Tae-Beom Ahn
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J Mov Disord. 2024;17(1):118-119. Published online November 2, 2023
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DOI: https://doi.org/10.14802/jmd.23173
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1,894
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Citations to this article as recorded by - Comments on “Absence of Alpha-Synuclein Aggregation in Patients With Parkinson’s Disease Complicated by Sigmoid Volvulus”
Sabri Selcuk Atamanalp, Refik Selim Atamanalp
Journal of Movement Disorders.2024; 17(2): 248. CrossRef
- Parainfectious Anti-Glial Fibrillary Acidic Protein-Associated Meningoencephalitis
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Jae Young Joo, Dallah Yoo, Tae-Beom Ahn
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J Mov Disord. 2022;15(1):66-70. Published online November 25, 2021
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DOI: https://doi.org/10.14802/jmd.21115
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PDFSupplementary Material
- Movement disorders associated with glial fibrillary acidic protein (GFAP) autoantibodies have rarely been reported as ataxia or tremors. A 32-year-old man with headache and fever, initially diagnosed with viral meningoencephalitis, showed gradual improvement with empirical treatment. Two weeks after the illness, he suddenly developed orofacial, tongue, and neck dyskinesia accompanied by oculomotor abnormalities, which developed into severe generalized choreoballism. Brain magnetic resonance imaging (fluid-attenuated inversion recovery) showed signal hyperintensities in the bilateral globus pallidus interna. The clinical picture suggested an acute inflammatory trigger of secondary autoimmune encephalitis. The autoimmune antibody test was positive for GFAP, with the strongest reactivity in the cerebrospinal fluid (CSF) before treatment and decreased reactivity in serial CSF examinations during immunotherapy. Dyskinesia gradually improved to the extent that it could be controlled with only oral medications. This patient presented with parainfectious GFAP meningoencephalitis with distinctive clinical features and imaging findings.
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Citations
Citations to this article as recorded by - Relapsing Autoimmune GFAP Astrocytopathy: Case Report
Ekaterina O. Chekanova, Аlla А. Shabalina, Taras O. Simaniv, Rodion N. Konovalov, Larisa A. Dobrynina, Lyudmila A. Kalashnikova, Maria V. Gubanova, Maria N. Zakharova
Annals of Clinical and Experimental Neurology.2024; 17(4): 89. CrossRef - Blood-based protein biomarkers during the acute ischemic stroke treatment window: a systematic review
Jan Rahmig, Aditya Chanpura, Aaliyah Schultz, Frank C. Barone, Deborah Gustafson, Alison E. Baird
Frontiers in Neurology.2024;[Epub] CrossRef - Comment on “Parainfectious Anti-Glial Fibrillary Acidic Protein-Associated Meningoencephalitis”
Byoung June Ahn, Kyum-Yil Kwon
Journal of Movement Disorders.2022; 15(2): 187. CrossRef - Re: Comment on “Parainfectious Anti-Glial Fibrillary Acidic Protein-Associated Meningoencephalitis”
Dallah Yoo, Tae-Beom Ahn
Journal of Movement Disorders.2022; 15(2): 189. CrossRef
- Investigation of Nocturnal Hypokinesia and Health-Related Quality of Life in Parkinsonian Patients with the Korean Version of the Nocturnal Hypokinesia Questionnaire
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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
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J Mov Disord. 2021;14(3):221-225. Published online May 26, 2021
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DOI: https://doi.org/10.14802/jmd.20172
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5,395
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Abstract
PDFSupplementary 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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Citations
Citations to this article as recorded by - 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
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Dallah Yoo, Ji-Hyun Choi, Jin-Hee Im, Man Jin Kim, Han-Joon Kim, Sung Sup Park, Beomseok Jeon
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J Mov Disord. 2020;13(3):225-228. Published online September 9, 2020
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DOI: https://doi.org/10.14802/jmd.20026
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6,223
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- 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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Citations
Citations to this article as recorded by - Global prevalence and incidence of Young Onset Parkinson’s disease: A systematic review and meta-analysis
Fardin Nabizadeh, Homa Seyedmirzaei, Nazanin Rafiei, Seyedeh Maryam Vafaei, Dorsa Shekouh, Ehsan Mehrtabar, Ehsan Mirzaaghazadeh, Zahra Mirzaasgari
Journal of Clinical Neuroscience.2024; 125: 59. CrossRef - Study of an FBXO7 patient mutation reveals Fbxo7 and PI31 co‐regulate proteasomes and mitochondria
Sara Al Rawi, Lorna Simpson, Guðrún Agnarsdóttir, Neil Q. McDonald, Veronika Chernuha, Orly Elpeleg, Massimo Zeviani, Roger A. Barker, Ronen Spiegel, Heike Laman
The FEBS Journal.2024; 291(12): 2565. CrossRef - 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
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Ryul Kim, Dallah Yoo, Sangmin Park, Jung Hwan Shin, Ji-Hyun Choi, Han-Joon Kim, Beomseok Jeon
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J Mov Disord. 2020;13(2):163-165. Published online March 18, 2020
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DOI: https://doi.org/10.14802/jmd.19077
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8,519
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Citations to this article as recorded by - Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature
Jayesh Sheth, Aadhira Nair, Riddhi Bhavsar, Koumudi Godbole, Chaitanya Datar, Sheela Nampoothiri, Inusha Panigrahi, Heli Shah, Shruti Bajaj, Naresh Tayade, Naveen Bhardwaj, Harsh Sheth
JIMD Reports.2024; 65(2): 85. CrossRef - 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
- Successful Pallidal Deep Brain Stimulation in a Patient with Childhood-Onset Generalized Dystonia with ANO3 Mutation
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Dallah Yoo, Han-Joon Kim, Jong-Hee Chae, Sun Ha Paek, Beomseok Jeon
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J Mov Disord. 2019;12(3):190-191. Published online July 17, 2019
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DOI: https://doi.org/10.14802/jmd.19016
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6,268
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Citations
Citations to this article as recorded by - The Clinical Spectrum of ANO3—Report of a New Family and Literature Review
Marco Percetti, Michela Zini, Paola Soliveri, Filippo Cogiamanian, Mariarosa Ferrara, Eva Orunesu, Alessandra Ranghetti, Carlo Ferrarese, Gianni Pezzoli, Barbara Garavaglia, Ioannis Ugo Isaias, Giorgio Sacilotto
Movement Disorders Clinical Practice.2024; 11(3): 289. CrossRef - The role of genetics in the treatment of dystonia with deep brain stimulation: Systematic review and Meta-analysis
Harini Sarva, Federico Rodriguez-Porcel, Francisco Rivera, Claudio Daniel Gonzalez, Samantha Barkan, Susmit Tripathi, Emilia Gatto, Pedro Garcia Ruiz
Journal of the Neurological Sciences.2024; 459: 122970. CrossRef - 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
Parkinsonism & Related Disorders.2023; 111: 105413. CrossRef - DBS-Evoked Pallidal Activity Correlates with Clinical Improvement in a Patient with ANO3-Related Dystonia
Aditya Boddu, Adam Bashir, Mohammad Awad, Barton Guthrie, Harrison Walker
SSRN Electronic Journal.2023;[Epub] CrossRef - Deep Brain Stimulation in Dystonia: Disentangling Heterogeneity
Alberto Albanese
Movement Disorders Clinical Practice.2021; 8(1): 6. CrossRef - Pallidal Deep Brain Stimulation for Monogenic Dystonia: The Effect of Gene on Outcome
Stephen Tisch, Kishore Raj Kumar
Frontiers in Neurology.2021;[Epub] CrossRef - The expanding clinical and genetic spectrum of ANO3 dystonia
Li-Ting Jiang, Li-Xi Li, Ying Liu, Xiao-Long Zhang, You-Gui Pan, Lin Wang, Xin-Hua Wan, Ling-Jing Jin
Neuroscience Letters.2021; 746: 135590. CrossRef - Huntington disease-like phenotype in a patient with ANO3 mutation
Shahedah Koya Kutty, Eoin Mulroy, Francesca Magrinelli, Giulia Di Lazzaro, Anna Latorre, Kailash P. Bhatia
Parkinsonism & Related Disorders.2021; 90: 120. CrossRef - Arching deep brain stimulation in dystonia types
Han-Joon Kim, Beomseok Jeon
Journal of Neural Transmission.2021; 128(4): 539. CrossRef
- Spinal Myoclonus Responding to Continuous Intrathecal Morphine Pump
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Jung-Eun Ahn, Dallah Yoo, Ki-Young Jung, Jong-Min Kim, Beomseok Jeon, Myung Chong Lee
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J Mov Disord. 2017;10(3):158-160. Published online September 12, 2017
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DOI: https://doi.org/10.14802/jmd.17023
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7,987
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- 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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Citations
Citations to this article as recorded by - 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 - Movement Disorders Associated With Radiotherapy and Surgical Procedures
Bharath Kumar Surisetti, Shweta Prasad, Vikram Venkappayya Holla, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal
Journal of Movement Disorders.2023; 16(1): 42. CrossRef - Myoclonus: An Electrophysiological Diagnosis
Shabbir Hussain I. Merchant, Felipe Vial‐Undurraga, Giorgio Leodori, Jay A. van Gerpen, Mark Hallett
Movement Disorders Clinical Practice.2020; 7(5): 489. CrossRef
- Comparison of Impact of Various Exercise Modalities on Parkinson’s Disease
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Jinse Park, Sang-Myung Cheon, Myung Jun Lee, Dong-Woo Rhu, Dallah Yoo
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Received February 13, 2025 Accepted April 15, 2025 Published online April 15, 2025
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DOI: https://doi.org/10.14802/jmd.25038
[Accepted]
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- Background and Purpose
Exercise is a critical non-pharmacological intervention for Parkinson’s disease (PD); however, comparative evidence on the efficacy of different exercise modalities is limited. This study aimed to compare the effects of tai chi, strength training, yoga, and home-based exercises on motor in patients with Parkinson’s disease (PD).
Subject and Methods
In this multicenter, open-label, randomized clinical trial, 99 patients with PD were allocated to one of four exercise interventions: tai chi, strength training, yoga, or home-based exercises. Each intervention consisted of 12 weeks of supervised sessions, followed by 12 weeks of independent practice. The primary outcomes included the MDS-UPDRS Part III and timed up-and-go (TUG) test parameters. The secondary outcomes assessed included physical activity (SPPB and 6 MWT), balance (Mini-BEST), and freezing of gait (NFOGQ).
Results
Home exercise and tai chi demonstrated significant improvements in the MDS-UPDRS Part III scores over 24 weeks. 6 minutes walking test was improved by home exercises, tai chi, and MiniBest was enhanced by strength exercises and yoga. The total duration and forward movement of TUG and turning duration measuring by wearable sensor were markedly improved in yoga group.
Conclusion
Our results support that various in adherence and outcomes of exercise have been observed in real-world setting even though effectiveness of exercise is well established. These findings highlighted the importance of tailoring exercise regimens considering individual patients in PD management
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