Journal of Movement Disorders

Original Article

Trends in Physiotherapy Interventions and Medical Costs for Parkinson’s Disease in South Korea, 2011–2020: Dong-Woo Ryu, Jinse Park, Myung Jun Lee, Dallah Yoo, Sang-Myung Cheon; J Mov Disord. 2024;17(3):270-281. Published online March 19, 2024; DOI: https://doi.org/10.14802/jmd.23269; Funded: Korea National Institute of Health, Korean Movement Disorder Society

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Abstract PDF Supplementary 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.

Letter to the editor

Joubert Syndrome Presenting With Levodopa-Responsive Parkinsonism: Jin Hwangbo, Ki-Seok Park, Hyun Sung Kim, Jae-Hwan Choi, Jae-Hyeok Lee; J Mov Disord. 2024;17(3):339-341. Published online March 27, 2024; DOI: https://doi.org/10.14802/jmd.23275; Funded: Institute for Convergence of Biomedical Science and Technology, Pusan National University Hospital, Korean Healthy Industry Development Institute, Ministry of Health and Welfare

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Brief communication

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; Funded: Samil. Co., LTD., Korea Health Industry Development Institute, Ministry of Health and Welfare

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Abstract PDF Supplementary 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.

Original Article

Clinical and Structural Characteristics of NEU1 Variants Causing Sialidosis Type 1: Yingji Li, Yang Liu, Rongfei Wang, Ran Ao, Feng Xiang, Xu Zhang, Xiangqing Wang, Shengyuan Yu; J Mov Disord. 2024;17(3):282-293. Published online April 11, 2024; DOI: https://doi.org/10.14802/jmd.23145; Funded: National Key Research and Development Program of China , National Natural Science Foundation of China

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Abstract PDF Supplementary Material: Objective
Sialidosis type 2 has variants that are both catalytically inactive (severe), while sialidosis type 1 has at least one catalytically active (mild) variant. This study aimed to discuss the structural changes associated with these variants in a newly reported family carrying N-acetyl-α-neuraminidase-1 (NEU1) variants and explore the clinical characteristics of different combinations of variants in sialidosis type 1.
Methods
First, whole-exome sequencing and detailed clinical examinations were performed on the family. Second, structural analyses, including assessments of energy, flexibility and polar contacts, were conducted for several NEU1 variants, and a sialidase activity assay was performed. Third, previous NEU1 variants were systematically reviewed, and the clinical characteristics of patients in the severe-mild and mild-mild groups with sialidosis type 1 were analyzed.
Results
We report a novel family with sialidosis type 1 and the compound heterozygous variants S182G and V143E. The newly identified V143E variant was predicted to be a mild variant through structural analysis and was confirmed by a sialidase activity assay. Cherry-red spots were more prevalent in the severe-mild group, and ataxia was more common in the mild-mild group. Impaired cognition was found only in the severe-mild group. Moreover, patients with cherry-red spots and abnormal electroencephalographies and visual evoked potentials had a relatively early age of onset, whereas patients with myoclonus had a late onset.
Conclusion
Changes in flexibility and local polar contacts may be indicators of NEU1 pathogenicity. Sialidosis type 1 can be divided into two subgroups according to the variant combinations, and patients with these two subtypes have different clinical characteristics.

Viewpoint

Neurological Perspectives Should Be Integrated Into the Management of Tardive Dyskinesia—Expert Opinions and Proposed Educational Initiatives in Asia: Roongroj Bhidayasiri, Onanong Phokaewvarangkul, Thien Thien Lim, Pramod Kumar Pal, Hirohisa Watanabe, Jin Whan Cho, Hui-Fang Shang; J Mov Disord. 2024;17(3):262-269. Published online April 11, 2024; DOI: https://doi.org/10.14802/jmd.24068; Funded: Teva Pharmaceutical Industries Ltd, Thailand Science Research and Innovation, Centre of Excellence grant of Chulalongkorn University

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Original Article

Fatigue in Parkinson’s Disease Is Due to Decreased Efficiency of the Frontal Network: Quantitative EEG Analysis: Min Seung Kim, Sanguk Park, Ukeob Park, Seung Wan Kang, Suk Yun Kang; J Mov Disord. 2024;17(3):304-312. Published online June 10, 2024; DOI: https://doi.org/10.14802/jmd.24038; Funded: National Research Foundation of Korea, Ministry of Science and ICT, Korea Health Industry Development Institute, Ministry of Health and Welfare

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Abstract PDF Supplementary Material: Objective
Fatigue is a common, debilitating nonmotor symptom of Parkinson’s disease (PD), but its mechanism is poorly understood. We aimed to determine whether electroencephalography (EEG) could objectively measure fatigue and to explore the pathophysiology of fatigue in PD.
Methods
We studied 32 de novo PD patients who underwent EEG. We compared brain activity between 19 PD patients without fatigue and 13 PD patients with fatigue via EEG power spectra and graphs, including the global efficiency, characteristic path length, clustering coefficient, small-worldness, local efficiency, degree centrality, closeness centrality, and betweenness centrality.
Results
No significant differences in absolute or relative power were detected between PD patients without or with fatigue (all p > 0.02, Bonferroni-corrected). According to our network analysis, brain network efficiency differed by frequency band. Generally, the brain network in the frontal area for theta and delta bands showed greater efficiency, and in the temporal area, the alpha1 band was less efficient in PD patients without fatigue (p < 0.0001, p = 0.0011, and p = 0.0007, respectively, Bonferroni-corrected).
Conclusion
Our study suggests that PD patients with fatigue have less efficient networks in the frontal area than PD patients without fatigue. These findings may explain why fatigue is common in PD, a frontostriatal disorder. Increased efficiency in the temporal area in PD patients with fatigue is assumed to be compensatory. Brain network analysis using graph theory is more valuable than power spectrum analysis in revealing the brain mechanism related to fatigue.

Letter to the editor

The First East Asian Patient With Parkinson’s Disease Caused by the A53E SNCA Mutation With Early Progression to Dementia: Yeo Jun Yoon, Chan Wook Park, Jin Ju Kim, Seok Jong Chung, Yun Joong Kim; J Mov Disord. 2024;17(3):364-367. Published online June 13, 2024; DOI: https://doi.org/10.14802/jmd.24118; Funded: Korean Healthy Industry Development Institute, Ministry of Health and Welfare

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Original Article

Association Between Exposure to Particulate Matter and the Incidence of Parkinson’s Disease: A Nationwide Cohort Study in Taiwan: Ting-Bin Chen, Chih-Sung Liang, Ching-Mao Chang, Cheng-Chia Yang, Hwa-Lung Yu, Yuh-Shen Wu, Winn-Jung Huang, I-Ju Tsai, Yuan-Horng Yan, Cheng-Yu Wei, Chun-Pai Yang; J Mov Disord. 2024;17(3):313-321. Published online June 18, 2024; DOI: https://doi.org/10.14802/jmd.24003; Funded: Hungkuang University, Kuang Tien General Hospital

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Abstract PDF: Objective
Emerging evidence suggests that air pollution exposure may increase the risk of Parkinson’s disease (PD). We aimed to investigate the association between exposure to fine particulate matter (PM2.5) and the risk of incident PD nationwide.
Methods
We utilized data from the Taiwan National Health Insurance Research Database, which is spatiotemporally linked with air quality data from the Taiwan Environmental Protection Administration website. The study population consisted of participants who were followed from the index date (January 1, 2005) until the occurrence of PD or the end of the study period (December 31, 2017). Participants who were diagnosed with PD before the index date were excluded. To evaluate the association between exposure to PM2.5 and incident PD risk, we employed Cox regression to estimate the hazard ratio and 95% confidence interval (CI).
Results
A total of 454,583 participants were included, with a mean (standard deviation) age of 63.1 (9.9) years and a male proportion of 50%. Over a mean follow-up period of 11.1 (3.6) years, 4% of the participants (n = 18,862) developed PD. We observed a significant positive association between PM2.5 exposure and the risk of PD, with a hazard ratio of 1.22 (95% CI, 1.20–1.23) per interquartile range increase in exposure (10.17 μg/m³) when adjusting for both SO₂ and NO₂.
Conclusion
We provide further evidence of an association between PM2.5 exposure and the risk of PD. These findings underscore the urgent need for public health policies aimed at reducing ambient air pollution and its potential impact on PD.

Letters to the editor

Basal Ganglia Syndrome in a Male With an XK Gene Variant but Without XK Disease (McLeod Syndrome): Jeryl Ritzi T. Yu, Ruth H. Walker, Adrian Danek, Connie M. Westhoff, Sunitha Vege, Ilia Itin; J Mov Disord. 2024;17(2):226-229. Published online January 8, 2024; DOI: https://doi.org/10.14802/jmd.23196; Funded: European Multidisciplinary Initiative on Neuroacanthocytosis, Ludwig-Maximilians-Universität Munich, Germany

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Hemimasticatory Spasm Treated With Muscle Afferent Block Therapy and Occlusal Splint: Kazuya Yoshida; J Mov Disord. 2024;17(2):230-232. Published online January 15, 2024; DOI: https://doi.org/10.14802/jmd.23249; Funded: Japan Society for the Promotion of Science, KAKENHI

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Citations

Citations to this article as recorded by

Hemimasticatory spasm: a series of 17 cases and a comprehensive review of the literature
Kazuya Yoshida
Frontiers in Neurology.2024;[Epub] CrossRef

A Case of 18p Chromosomal Deletion Encompassing GNAL in a Patient With Dystonia-Parkinsonism: Giulia Di Rauso, Francesco Cavallieri, Edoardo Monfrini, Alessandro Fraternali, Valentina Fioravanti, Sara Grisanti, Annalisa Gessani, Isabella Campanini, Andrea Merlo, Giulia Toschi, Manuela Napoli, Rosario Pascarella, Rosamaria Silipigni, Palma Finelli, Jefri J. Paul, Peter Bauer, Annibale Versari, Alessio Di Fonzo, Franco Valzania; J Mov Disord. 2024;17(2):236-238. Published online January 23, 2024; DOI: https://doi.org/10.14802/jmd.23222; Funded: Italian Ministry of Health

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Citations

Citations to this article as recorded by

Tremulous Dystonia Due to GNAL Haploinsufficiency Caused by 18p Deletion Syndrome
Arianna Braccia, Miryam Carecchio, Francesca Luisa Sciacca, Anna Castagna, Antonio Emanuele Elia, Luigi Michele Romito
Journal of Movement Disorders.2024; 17(3): 354. CrossRef

Case Report

Loss-of-Function Variant in the SMPD1 Gene in Progressive Supranuclear Palsy-Richardson Syndrome Patients of Chinese Ancestry: Shen-Yang Lim, Ai Huey Tan, Jia Nee Foo, Yi Jayne Tan, Elaine GY Chew, Azlina Ahmad Annuar, Alfand Marl Dy Closas, Azalea Pajo, Jia Lun Lim, Yi Wen Tay, Anis Nadhirah, Jia Wei Hor, Tzi Shin Toh, Lei Cheng Lit, Jannah Zulkefli, Su Juen Ngim, Weng Khong Lim, Huw R. Morris, Eng-King Tan, Adeline SL Ng; J Mov Disord. 2024;17(2):213-217. Published online January 31, 2024; DOI: https://doi.org/10.14802/jmd.24009; Funded: Ministry of Higher Education Malaysia, University of Malaya Parkinson’s Disease, Ministry of Health’s National Medical Research Council, Ministry of Education , Open Fund Large Collaborative, Singapore Translational Research, Clinician-Scientist Award, Precision Medicine Research, Singapore

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Abstract PDF Supplementary Material

Lysosomal dysfunction plays an important role in neurodegenerative diseases, including Parkinson’s disease (PD) and possibly Parkinson-plus syndromes such as progressive supranuclear palsy (PSP). This role is exemplified by the involvement of variants in the GBA1 gene, which results in a deficiency of the lysosomal enzyme glucocerebrosidase and is the most frequently identified genetic factor underlying PD worldwide. Pathogenic variants in the SMPD1 gene are a recessive cause of Niemann–Pick disease types A and B. Here, we provide the first report on an association between a loss-of-function variant in the SMPD1 gene present in a heterozygous state (p.Pro332Arg/p.P332R, which is known to result in reduced lysosomal acid sphingomyelinase activity), with PSP-Richardson syndrome in three unrelated patients of Chinese ancestry.

Citations

Citations to this article as recorded by

Parkinson’s Disease is Predominantly a Genetic Disease
Shen-Yang Lim, Christine Klein
Journal of Parkinson's Disease.2024; 14(3): 467. CrossRef
Identification of Genetic Variants in Progressive Supranuclear Palsy in Southeast Asia
Adeline Su Lyn Ng, Ai Huey Tan, Yi Jayne Tan, Jia Lun Lim, Michelle Mulan Lian, Alfand Marl Dy Closas, Azlina Ahmad‐Annuar, Shanthi Viswanathan, Yuen Kang Chia, Jia Nee Foo, Weng Khong Lim, Eng‐King Tan, Shen‐Yang Lim
Movement Disorders.2024;[Epub] CrossRef

Original Articles

Comparing Montreal Cognitive Assessment Performance in Parkinson’s Disease Patients: Age- and Education-Adjusted Cutoffs vs. Machine Learning: Kyeongmin Baek, Young Min Kim, Han Kyu Na, Junki Lee, Dong Ho Shin, Seok-Jae Heo, Seok Jong Chung, Kiyong Kim, Phil Hyu Lee, Young H. Sohn, Jeehee Yoon, Yun Joong Kim; J Mov Disord. 2024;17(2):171-180. Published online February 13, 2024; DOI: https://doi.org/10.14802/jmd.23271; Funded: Korea Health Industry Development Institute, Ministry of Health and Welfare, National Research Foundation of Korea, Ministry of Science and ICT

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Abstract PDF Supplementary Material: Objective
The Montreal Cognitive Assessment (MoCA) is recommended for general cognitive evaluation in Parkinson’s disease (PD) patients. However, age- and education-adjusted cutoffs specifically for PD have not been developed or systematically validated across PD cohorts with diverse education levels.
Methods
In this retrospective analysis, we utilized data from 1,293 Korean patients with PD whose cognitive diagnoses were determined through comprehensive neuropsychological assessments. Age- and education-adjusted cutoffs were formulated based on 1,202 patients with PD. To identify the optimal machine learning model, clinical parameters and MoCA domain scores from 416 patients with PD were used. Comparative analyses between machine learning methods and different cutoff criteria were conducted on an additional 91 consecutive patients with PD.
Results
The cutoffs for cognitive impairment decrease with increasing age within the same education level. Similarly, lower education levels within the same age group correspond to lower cutoffs. For individuals aged 60–80 years, cutoffs were set as follows: 25 or 24 years for those with more than 12 years of education, 23 or 22 years for 10–12 years, and 21 or 20 years for 7–9 years. Comparisons between age- and education-adjusted cutoffs and the machine learning method showed comparable accuracies. The cutoff method resulted in a higher sensitivity (0.8627), whereas machine learning yielded higher specificity (0.8250).
Conclusion
Both the age- and education-adjusted cutoff methods and machine learning methods demonstrated high effectiveness in detecting cognitive impairment in PD patients. This study highlights the necessity of tailored cutoffs and suggests the potential of machine learning to improve cognitive assessment in PD patients.

High Levels of Mutant Huntingtin Protein in Tear Fluid From Huntington’s Disease Gene Expansion Carriers: Marlies Gijs, Nynke Jorna, Nicole Datson, Chantal Beekman, Cira Dansokho, Alexander Weiss, David E. J. Linden, Mayke Oosterloo; J Mov Disord. 2024;17(2):181-188. Published online February 21, 2024; DOI: https://doi.org/10.14802/jmd.24014; Funded: VICO Therapeutics B.V.

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Abstract PDF Supplementary Material

Objective
Huntington’s disease (HD) is an autosomal dominant, fully penetrant, neurodegenerative disease that most commonly affects middle-aged adults. HD is caused by a CAG repeat expansion in the HTT gene, resulting in the expression of mutant huntingtin (mHTT). Our aim was to detect and quantify mHTT in tear fluid, which, to our knowledge, has never been measured before.
Methods
We recruited 20 manifest and 13 premanifest HD gene expansion carriers, and 20 age-matched controls. All patients underwent detailed assessments, including the Unified Huntington’s Disease Rating Scale (UHDRS) total motor score (TMS) and total functional capacity (TFC) score. Tear fluid was collected using paper Schirmer’s strips. The level of tear mHTT was determined using single-molecule counting SMCxPRO technology.
Results
The average tear mHTT levels in manifest (67,223 ± 80,360 fM) and premanifest patients (55,561 ± 45,931 fM) were significantly higher than those in controls (1,622 ± 2,179 fM). We noted significant correlations between tear mHTT levels and CAG repeat length, “estimated years to diagnosis,” disease burden score and UHDRS TMS and TFC. The receiver operating curve demonstrated an almost perfect score (area under the curve [AUC] = 0.9975) when comparing controls to manifest patients. Similarly, the AUC between controls and premanifest patients was 0.9846. The optimal cutoff value for distinguishing between controls and manifest patients was 4,544 fM, whereas it was 6,596 fM for distinguishing between controls and premanifest patients.
Conclusion
Tear mHTT has potential for early and noninvasive detection of alterations in HD patients and could be integrated into both clinical trials and clinical diagnostics.

Citations

Citations to this article as recorded by

Unveiling brain disorders using liquid biopsy and Raman spectroscopy
Jeewan C. Ranasinghe, Ziyang Wang, Shengxi Huang
Nanoscale.2024; 16(25): 11879. CrossRef
Ocular tear fluid biomarkers collected by contact lenses
Nikolay Boychev, Vincent Yeung, Menglu Yang, Levi N. Kanu, Amy E. Ross, Liangju Kuang, Lin Chen, Joseph B. Ciolino
Biochemical and Biophysical Research Communications.2024; 734: 150744. CrossRef

Effectiveness of Live-Streaming Tele-Exercise Intervention in Patients With Parkinson’s Disease: A Pilot Study: Jongmok Ha, Jung Hyun Park, Jun Seok Lee, Hye Young Kim, Ji One Song, Jiwon Yoo, Jong Hyeon Ahn, Jinyoung Youn, Jin Whan Cho; J Mov Disord. 2024;17(2):189-197. Published online February 29, 2024; DOI: https://doi.org/10.14802/jmd.23251; Funded: Korea Disease Control and Prevention Agency

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Abstract PDF Supplementary Material: Objective
Exercise can improve both motor and nonmotor symptoms in people with Parkinson’s disease (PwP), but there is an unmet need for accessible and sustainable exercise options. This study aimed to evaluate the effect, feasibility, and safety of a regularly performed live-streaming tele-exercise intervention for PwP.
Methods
A live-streaming exercise intervention for PwP was implemented twice a week for 12 weeks. We measured the motor and nonmotor symptom scores of the included patients before and after the intervention. Changes in clinical scores from baseline to postintervention were analyzed using paired t-tests. Factors associated with improvements in clinical scores and compliance were analyzed using Pearson’s correlation analysis.
Results
Fifty-six participants were enrolled in the study. There were significant improvements in Hospital Anxiety and Depression Scale (HADS)-anxiety (p = 0.007), HADS-depression (p < 0.001), Unified Parkinson’s Disease Rating Scale (UPDRS) part III (p < 0.001), UPDRS total (p = 0.015), Hoehn and Yahr stage (p = 0.027), and Parkinson’s Disease Fatigue Scale-16 (p = 0.026) scores after the intervention. Improvements in motor symptoms were associated with improvements in mood symptoms and fatigue. Higher motor impairment at baseline was associated with a greater compliance rate and better postintervention composite motor and nonmotor outcomes (ΔUPDRS total score). Overall, the 12-week tele-exercise program was feasible and safe for PwP. No adverse events were reported. The overall adherence rate was 60.0% in our cohort, and 83.4% of the participants were able to participate in more than half of the exercise routines.
Conclusion
The live-streaming tele-exercise intervention is a safe, feasible, and effective nonpharmacological treatment option that can alleviate fatigue and improve mood and motor symptoms in PwP.

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