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Han-Joon Kim 31 Articles
Article image
Evaluating the Validity and Reliability of the Korean Version of the Scales for Outcomes in Parkinson’s Disease–Cognition
Jinse Park, Eungseok Oh, Seong-Beom Koh, In-Uk Song, Tae-Beom Ahn, Sang Jin Kim, Sang-Myung Cheon, Yoon-Joong Kim, Jin Whan Cho, Hyeo-Il Ma, Mee Young Park, Jong Sam Baik, Phil Hyu Lee, Sun Ju Chung, Jong-Min Kim, Han-Joon Kim, Young-Hee Sung, Do Young Kwon, Jae-Hyeok Lee, Jee-Young Lee, Ji Seon Kim, Ji Young Yun, Hee Jin Kim, Jin Yong Hong, Mi-Jung Kim, Jinyoung Youn, Hui-Jun Yang, Won Tae Yoon, Sooyeoun You, Kyum-Yil Kwon, Su-Yun Lee, Younsoo Kim, Hee-Tae Kim, Joong-Seok Kim, Ji-Young Kim
J Mov Disord. 2024;17(3):328-332.   Published online April 3, 2024
DOI: https://doi.org/10.14802/jmd.24061
  • 1,332 View
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AbstractAbstract PDFSupplementary Material
Objective
The Scales for Outcomes in Parkinson’s Disease–Cognition (SCOPA-Cog) was developed to assess cognition in patients with Parkinson’s disease (PD). In this study, we aimed to evaluate the validity and reliability of the Korean version of the SCOPACog (K-SCOPA-Cog).
Methods
We enrolled 129 PD patients with movement disorders from 31 clinics in South Korea. The original version of the SCOPA-Cog was translated into Korean using the translation-retranslation method. The test–retest method with an intraclass correlation coefficient (ICC) and Cronbach’s alpha coefficient were used to assess reliability. Spearman’s rank correlation analysis with the Montreal Cognitive Assessment-Korean version (MOCA-K) and the Korean Mini-Mental State Examination (K-MMSE) were used to assess concurrent validity.
Results
The Cronbach’s alpha coefficient was 0.797, and the ICC was 0.887. Spearman’s rank correlation analysis revealed a significant correlation with the K-MMSE and MOCA-K scores (r = 0.546 and r = 0.683, respectively).
Conclusion
Our results demonstrate that the K-SCOPA-Cog has good reliability and validity.
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A Survey of Perspectives on Telemedicine for Patients With Parkinson’s Disease
Jae Young Joo, Ji Young Yun, Young Eun Kim, Yu Jin Jung, Ryul Kim, Hui-Jun Yang, Woong-Woo Lee, Aryun Kim, Han-Joon Kim
J Mov Disord. 2024;17(1):89-93.   Published online August 22, 2023
DOI: https://doi.org/10.14802/jmd.23130
  • 2,092 View
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AbstractAbstract PDFSupplementary Material
Objective
Parkinson’s disease (PD) patients often find it difficult to visit hospitals because of motor symptoms, distance to the hospital, or the absence of caregivers. Telemedicine is one way to solve this problem.
Methods
We surveyed 554 PD patients from eight university hospitals in Korea. The questionnaire consisted of the clinical characteristics of the participants, possible teleconferencing methods, and preferences for telemedicine.
Results
A total of 385 patients (70%) expressed interest in receiving telemedicine. Among them, 174 preferred telemedicine whereas 211 preferred in-person visits. The longer the duration of disease, and the longer the time required to visit the hospital, the more patients were interested in receiving telemedicine.
Conclusion
This is the first study on PD patients’ preferences regarding telemedicine in Korea. Although the majority of patients with PD have a positive view of telemedicine, their interest in receiving telemedicine depends on their different circumstances.
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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
J Mov Disord. 2024;17(1):30-37.   Published online September 11, 2023
DOI: https://doi.org/10.14802/jmd.23134
  • 3,575 View
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AbstractAbstract PDFSupplementary 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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  • A Practical Guide for Clinical Approach to Patients With Huntington’s Disease in Korea
    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
    Journal of Movement Disorders.2024; 17(2): 138.     CrossRef
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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
  • 1,318 View
  • 66 Download
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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
  • 1,887 View
  • 72 Download
PDFSupplementary Material
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
  • 2,717 View
  • 87 Download
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  • Efficacy of telerehabilitation with digital and robotic tools for the continuity of care of people with chronic neurological disorders: The TELENEURO@REHAB protocol for a randomized controlled trial
    Federica Rossetto, Fabiola Giovanna Mestanza Mattos, Elisa Gervasoni, Marco Germanotta, Arianna Pavan, Davide Cattaneo, Irene Aprile, Francesca Baglio
    DIGITAL HEALTH.2024;[Epub]     CrossRef
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First Cases of Spinocerebellar Ataxia 42 in Two Korean Families
Hyoshin Son, Jihoon G. Yoon, Man Jin Kim, Jangsup Moon, Han-Joon Kim
J Mov Disord. 2023;16(1):110-113.   Published online January 12, 2023
DOI: https://doi.org/10.14802/jmd.22150
  • 1,887 View
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PDFSupplementary Material

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  • Targeting Ion Channels and Purkinje Neuron Intrinsic Membrane Excitability as a Therapeutic Strategy for Cerebellar Ataxia
    Haoran Huang, Vikram G. Shakkottai
    Life.2023; 13(6): 1350.     CrossRef
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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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AbstractAbstract PDFSupplementary 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.

Citations

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  • Ocular vestibular-evoked myogenic potential assists in differentiation of multiple system atrophy from Parkinson’s disease
    Keun-Tae Kim, Kyoungwon Baik, Sun-Uk Lee, Euyhyun Park, Chan-Nyoung Lee, Donghoon Woo, Yukang Kim, Seoui Kwag, Hyunsoh Park, Ji-Soo Kim
    Journal of Movement Disorders.2024;[Epub]     CrossRef
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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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AbstractAbstract PDFSupplementary Material
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.

Citations

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  • 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.2024; 95(1): 156.     CrossRef
  • Illustration of the long-term efficacy of pallidal deep brain stimulation in a patient with PKAN dystonia
    Luigi M. Romito, Fabiana Colucci, Giovanna Zorzi, Barbara Garavaglia, Ahmet Kaymak, Alberto Mazzoni, Celeste Panteghini, Nico Golfrè Andreasi, Sara Rinaldo, Vincenzo Levi, Miryam Carecchio, Roberto Eleopra
    Parkinsonism & Related Disorders.2024; 123: 106977.     CrossRef
  • Case of Hallervorden–Spatz Syndrome: A Tale of Twin Sisters
    Naveen Reddy, Jitender Sharma, Anmol Sharma
    Neurology India.2024; 72(2): 411.     CrossRef
  • Surgical treatment of movement disorders in neurometabolic conditions
    Alonso Zea Vera, Andrea L. Gropman
    Frontiers in Neurology.2023;[Epub]     CrossRef
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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
  • 3,301 View
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AbstractAbstract PDFSupplementary 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.

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  • Symmetric and Profound Monoaminergic Degeneration in Parkinson’s Disease with Premotor REM Sleep Behavior Disorder
    Kyung Ah Woo, Han-Joon Kim, Jung Hwan Shin, Kangyoung Cho, Hongyoon Choi, Beomseok Jeon
    Journal of Parkinson's Disease.2024; 14(4): 823.     CrossRef
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A Case of AOA2 With Compound Heterozygous SETX Mutations
Hee Jin Chang, Ryul Kim, Minchae Kim, Jangsup Moon, Man Jin Kim, Han-Joon Kim
J Mov Disord. 2022;15(2):178-180.   Published online December 24, 2021
DOI: https://doi.org/10.14802/jmd.21139
  • 3,115 View
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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
  • 3,668 View
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AbstractAbstract PDFSupplementary 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.

Citations

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  • Botulinum Toxin for Axial Postural Abnormalities in Parkinson’s Disease: A Systematic Review
    Marialuisa Gandolfi, Carlo Alberto Artusi, Gabriele Imbalzano, Serena Camozzi, Mauro Crestani, Leonardo Lopiano, Michele Tinazzi, Christian Geroin
    Toxins.2024; 16(5): 228.     CrossRef
  • Research Progress of Camptocormia in Parkinson Disease
    Yilin Lu, Xiang Zhang, Junyu Li, Weishi Li, Miao Yu
    Clinical Spine Surgery.2024;[Epub]     CrossRef
  • 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
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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
  • 3,001 View
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AbstractAbstract PDFSupplementary 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.

Citations

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  • Unveiling the Impact of Outpatient Physiotherapy on Specific Motor Symptoms in Parkinson’s Disease: A Prospective Cohort Study
    Yuta Terasawa, Koki Ikuno, Shintaro Fujii, Yuki Nishi, Emi Tanizawa, Sachio Nabeshima, Yohei Okada
    Brain & Neurorehabilitation.2023;[Epub]     CrossRef
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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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AbstractAbstract 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.

Citations

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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
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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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AbstractAbstract 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.

Citations

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  • 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
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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PDFSupplementary Material

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  • 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
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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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AbstractAbstract 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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Article image
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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PDFSupplementary Material

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  • 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
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    Alberto Albanese
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Article image
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
  • 7,853 View
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AbstractAbstract PDFSupplementary 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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  • Neuropsychological Changes in Isolated REM Sleep Behavior Disorder: A Systematic Review and Meta-analysis of Cross-sectional and Longitudinal Studies
    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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    Sungwoo Kang, Seun Jeon, Young-gun Lee, Byoung Seok Ye
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    Changhwan Sung, Seung Jun Oh, Jae Seung Kim
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    Beatrice Orso, Pietro Mattioli, Eun-Jin Yoon, Yu Kyeong Kim, Heejung Kim, Jung Hwan Shin, Ryul Kim, Claudio Liguori, Francesco Famà, Andrea Donniaquio, Federico Massa, David Vállez García, Sanne K. Meles, Klaus L. Leenders, Agostino Chiaravalloti, Matteo
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    Don Gueu Park, Ju Yeong Kim, Min Seung Kim, Mi Hee Kim, Young-Sil An, Jaerak Chang, Jung Han Yoon
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    Rafail Matzaras, Kuangyu Shi, Artemios Artemiadis, Panagiotis Zis, Georgios Hadjigeorgiou, Axel Rominger, Claudio L.A. Bassetti, Panagiotis Bargiotas
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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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AbstractAbstract 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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  • Assessments scales for the evaluation of health-related quality of life in Parkinson's disease, progressive supranuclear palsy, and multiple system atrophy: a systematic review
    Maria Lucia Maiuolo, Roberto Giorgini, Maria Grazia Vaccaro, Alessio Facchin, Andrea Quattrone, Aldo Quattrone
    Frontiers in Psychology.2024;[Epub]     CrossRef
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    Bogumiła Pniak, Justyna Leszczak, Jadwiga Kurczab, Aleksandra Krzemińska, Joanna Pięta, Agnieszka Plis, Ewelina Czenczek-Lewandowska, Agnieszka Guzik
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    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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    Yi-Cheng Tai, Chin-Hsien Lin
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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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AbstractAbstract 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.
Article image
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
  • 10,152 View
  • 260 Download
  • 12 Web of Science
  • 15 Crossref
AbstractAbstract PDFSupplementary 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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Article image
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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PDF

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    James Y. Liao, Philippe A. Salles, Umar A. Shuaib, Hubert H. Fernandez
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Article image
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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AbstractAbstract 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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Validation of the Korean Version of the Scale for Outcomes in Parkinson’s Disease-Autonomic
Ji-Young Kim, In-Uk Song, Seong-Beom Koh, Tae-Beom Ahn, Sang Jin Kim, Sang-Myung Cheon, Jin Whan Cho, Yun Joong Kim, Hyeo-Il Ma, Mee-Young Park, Jong Sam Baik, Phil Hyu Lee, Sun Ju Chung, Jong-Min Kim, Han-Joon Kim, Young-Hee Sung, Do Young Kwon, Jae-Hyeok Lee, Jee-Young Lee, Ji Sun Kim, Ji Young Yun, Hee Jin Kim, Jin Young Hong, Mi-Jung Kim, Jinyoung Youn, Ji Seon Kim, Eung Seok Oh, Hui-Jun Yang, Won Tae Yoon, Sooyeoun You, Kyum-Yil Kwon, Hyung-Eun Park, Su-Yun Lee, Younsoo Kim, Hee-Tae Kim, Joong-Seok Kim
J Mov Disord. 2017;10(1):29-34.   Published online January 18, 2017
DOI: https://doi.org/10.14802/jmd.16057
  • 15,933 View
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AbstractAbstract PDFSupplementary Material
Objective
Autonomic symptoms are commonly observed in patients with Parkinson’s disease (PD) and often limit the activities of daily living. The Scale for Outcomes in Parkinson’s disease-Autonomic (SCOPA-AUT) was developed to evaluate and quantify autonomic symptoms in PD. The goal of this study was to translate the original SCOPA-AUT, which was written in English, into Korean and to evaluate its reliability and validity for Korean PD patients.
Methods
For the translation, the following processes were performed: forward translation, backward translation, expert review, pretest of the pre-final version and development of the final Korean version of SCOPA-AUT (K-SCOPA-AUT). In total, 127 patients with PD from 31 movement disorder clinics of university-affiliated hospitals in Korea were enrolled in this study. All patients were assessed using the K-SCOPA-AUT and other motor, non-motor, and quality of life scores. Test-retest reliability for the K-SCOPA-AUT was assessed over a time interval of 10−14 days.
Results
The internal consistency and reliability of the K-SCOPA-AUT was 0.727 as measured by the mean Cronbach’s α-coefficient. The test-retest correlation reliability was 0.859 by the Guttman split-half coefficient. The total K-SCOPA-AUT score showed a positive correlation with other non-motor symptoms [the Korean version of non-motor symptom scale (K-NMSS)], activities of daily living (Unified Parkinson’s Disease Rating Scale part II) and quality of life [the Korean version of Parkinson’s Disease Quality of Life 39 (K-PDQ39)].
Conclusion
The K-SCOPA-AUT had good reliability and validity for the assessment of autonomic dysfunction in Korean PD patients. Autonomic symptom severities were associated with many other motor and non-motor impairments and influenced quality of life.

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Article image
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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AbstractAbstract 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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Dural Arteriovenous Fistula-Associated Reversible Parkinsonism with Presynaptic Dopaminergic Loss
Hang Rai Kim, Jee-Young Lee, Yu Kyeong Kim, Hyeyoung Park, Han-Joon Kim, Young-Je Son, Beom Seok Jeon
J Mov Disord. 2015;8(3):141-143.   Published online September 10, 2015
DOI: https://doi.org/10.14802/jmd.15021
  • 14,203 View
  • 71 Download
  • 6 Web of Science
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PDF

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Nonmotor Symptoms and Subthalamic Deep Brain Stimulation in Parkinson’s Disease
Han-Joon Kim, Beom S. Jeon, Sun Ha Paek
J Mov Disord. 2015;8(2):83-91.   Published online May 31, 2015
DOI: https://doi.org/10.14802/jmd.15010
  • 25,341 View
  • 250 Download
  • 57 Web of Science
  • 51 Crossref
AbstractAbstract PDF
Subthalamic deep brain stimulation (STN DBS) is an established treatment for the motor symptoms in patients with advanced Parkinson’s disease (PD). In addition to improvements in motor symptoms, many studies have reported changes in various nonmotor symptoms (NMSs) after STN DBS in patients with PD. Psychiatric symptoms, including depression, apathy, anxiety, and impulsivity, can worsen or improve depending on the electrical stimulation parameters, the locations of the stimulating contacts within the STN, and changes in medications after surgery. Global cognitive function is not affected by STN DBS, and there is no increase in the incidence of dementia after STN DBS compared to that after medical treatment, although clinically insignificant declines in verbal fluency have been consistently reported. Pain, especially PD-related pain, improves with STN DBS. Evidence regarding the effects of STN DBS on autonomic symptoms and sleep-related problems is limited and remains conflicting. Many symptoms of nonmotor fluctuations, which are occasionally more troublesome than motor fluctuations, improve with STN DBS. Although it is clear that NMSs are not target symptoms for STN DBS, NMSs have a strong influence on the quality of life of patients with PD, and clinicians should thus be aware of these NMSs when deciding whether to perform surgery and should pay attention to changes in these symptoms after STN DBS to ensure the optimal care for patients.

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Stiff-Person Syndrome: Case Series
Yu Jin Jung, Han G. Jeong, Ryul Kim, Han-Joon Kim, Beom S. Jeon
J Mov Disord. 2014;7(1):19-21.   Published online April 30, 2014
DOI: https://doi.org/10.14802/jmd.14004
  • 14,473 View
  • 1,378 Download
  • 5 Web of Science
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AbstractAbstract PDF
Stiff-person syndrome (SPS) is a rare disorder, characterized by progressive fluctuating muscular rigidity and spasms. Glutamic acid decarboxylase (GAD) antibody is primarily involved in the pathogenesis of SPS and SPS is strongly associated with other autoimmune disease. Here we report three cases of patients with classical SPS finally confirmed by high serum level of GAD antibodies. All of our patients respond favorably to gamma amino butyric acid-enhancing drugs and immunotherapies.

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Article image
Amantadine Induced Corneal Edema in a Patient with Primary Progressive Freezing of Gait
Young Eun Kim, Ji Young Yun, Hui-Jun Yang, Han-Joon Kim, Mee Kum Kim, Won Ryang Wee, Beom S. Jeon
J Mov Disord. 2013;6(2):34-36.   Published online October 30, 2013
DOI: https://doi.org/10.14802/jmd.13008
  • 19,051 View
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  • 8 Crossref
AbstractAbstract PDF

Amantadine is commonly used for Parkinsonism. However amantadine can induce adverse corneal reaction. Here we report a patient with primary progressive freezing of gait who had severe corneal edema associated with amantadine, which was reversible after discontinuation of the amantadine. This report alerts neurologists for this reversible but potentially critical corneal edema in patients with Parkinsonism who are receiving amantadine.

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A Case of Adrenoleukodystrophy Presenting as Progressive Cerebellar Dysfunction
Seunguk Jung, Jong Won Chung, Ji Young Yun, Han-Joon Kim, Beom Seok Jeon
J Mov Disord. 2009;2(2):91-94.
DOI: https://doi.org/10.14802/jmd.09025
  • 14,972 View
  • 91 Download
  • 4 Crossref
AbstractAbstract PDF

X-linked adrenoleukodystrophy (X-ALD) is a hereditary neurological disorder affecting the nervous system and adrenal cortex. The phenotype of X-ALD ranges from the rapidly progressive cerebral form to milder adrenomyeloneuropathy. However, cerebellar manifestations are rare. We report a case of adrenoleukodystrophy presenting as progressive cerebellar dysfunction resembling olivopontocerebellar degeneration, with a review of the literature

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