Journal of Movement Disorders

Volume 16(1); January 2023

Review Articles

Subjective Cognitive Complaints in Cognitively Normal Patients With Parkinson’s Disease: A Systematic Review: Jin Yong Hong, Phil Hyu Lee; J Mov Disord. 2023;16(1):1-12. Published online November 10, 2022; DOI: https://doi.org/10.14802/jmd.22059

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Subjective cognitive complaints (SCCs) refer to self-perceived cognitive decline and are related to objective cognitive decline. SCCs in cognitively normal individuals are considered a preclinical sign of subsequent cognitive impairment due to Alzheimer’s disease, and SCCs in cognitively normal patients with Parkinson’s disease (PD) are also gaining attention. The aim of this review was to provide an overview of the current research on SCCs in cognitively normal patients with PD. A systematic search found a lack of consistency in the methodologies used to define and measure SCCs. Although the association between SCCs and objective cognitive performance in cognitively normal patients with PD is controversial, SCCs appear to be predictive of subsequent cognitive decline. These findings support the clinical value of SCCs in cognitively normal status in PD; however, further convincing evidence from biomarker studies is needed to provide a pathophysiological basis for these findings. Additionally, a consensus on the definition and assessment of SCCs is needed for further investigations.

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Daily Emotional Experiences in Persons with Parkinson Disease: Relations to Subjective Cognitive Complaints and Quality of Life
Karen R. Hebert, Mackenzie Feldhacker
Physical & Occupational Therapy In Geriatrics.2024; 42(3): 228. CrossRef
Subjective Cognitive Complaints in Parkinson's Disease: A Systematic Review and Meta‐Analysis
Mattia Siciliano, Alessandro Tessitore, Francesca Morgante, Jennifer G. Goldman, Lucia Ricciardi
Movement Disorders.2024; 39(1): 17. CrossRef
Mild cognitive impairment in Parkinson's disease: current view
Kurt A. Jellinger
Frontiers in Cognition.2024;[Epub] CrossRef
Neurocognitive Impairment and Social Cognition in Parkinson’s Disease Patients
Triantafyllos Doskas, Konstantinos Vadikolias, Konstantinos Ntoskas, George D. Vavougios, Dimitrios Tsiptsios, Polyxeni Stamati, Ioannis Liampas, Vasileios Siokas, Lambros Messinis, Grigorios Nasios, Efthimios Dardiotis
Neurology International.2024; 16(2): 432. CrossRef
Cognitive disorders in Parkinson's disease
Victor Kholin, Iryna Karaban, Sergiy Kryzhanovskiy, Nina Karasevich, Natalia Melnik, Maryna Khodakovska, Hanna Shershanova, Natalia Movchun
Ageing & Longevity.2024; (2 2024): 51. CrossRef
Unveiling the role of subjective cognitive complaints in predicting cognitive impairment in Parkinson´s Disease– A longitudinal study with 4 year of follow up
Marta Magriço, Bruna Meira, Marco Fernandes, Manuel Salavisa, Marlene Saraiva, Cláudia Borbinha, João Pedro Marto, Raquel Barbosa, Paulo Bugalho
Neurological Sciences.2024; 45(11): 5271. CrossRef
Self‐ and study partner–reported cognitive decline in older adults without dementia: The role of α‐synuclein and amyloid biomarkers in the Alzheimer's Disease Neuroimaging Initiative
Kelsey R. Thomas, Katherine J. Bangen, Lindsay J. Rotblatt, Alexandra J. Weigand, Lauren Edwards, Duygu Tosun, Douglas Galasko
Alzheimer's & Dementia.2024; 20(11): 7777. CrossRef
Mitochondrial Dysfunction in Parkinson’s Disease: A Contribution to Cognitive Impairment?
Antonella Scorziello, Rossana Sirabella, Maria Josè Sisalli, Michele Tufano, Lucia Giaccio, Elena D’Apolito, Lorenzo Castellano, Lucio Annunziato
International Journal of Molecular Sciences.2024; 25(21): 11490. CrossRef
Total burden of cerebral small vessel disease predict subjective cognitive decline in patients with Parkinson’s disease
Wenchao Qiu, Weili Hu, Yingchao Ge, Peiting Liu, Minghui Zhao, Haifeng Lu, Jian Tao, Shouru Xue
Frontiers in Aging Neuroscience.2024;[Epub] CrossRef
Cognitive impairment in Parkinson’s disease and other parkinsonian syndromes
Alexandros Giannakis, Chrissa Sioka, Eugenia Kloufetou, Spiridon Konitsiotis
Journal of Neural Transmission.2024;[Epub] CrossRef
Association of Neuropsychiatric Symptom Profiles With Cognitive Decline in Patients With Parkinson Disease and Mild Cognitive Impairment
Young-gun Lee, Mincheol Park, Seong Ho Jeong, Kyoungwon Baik, Sungwoo Kang, So Hoon Yoon, Han Kyu Na, Young H. Sohn, Phil Hyu Lee
Neurology.2023;[Epub] CrossRef
Subjective cognitive complaints in patients with progressive supranuclear palsy
Jun Seok Lee, Jong Hyeon Ahn, Jong Mok Ha, Jinyoung Youn, Jin Whan Cho
Frontiers in Neurology.2023;[Epub] CrossRef
Pathobiology of Cognitive Impairment in Parkinson Disease: Challenges and Outlooks
Kurt A. Jellinger
International Journal of Molecular Sciences.2023; 25(1): 498. CrossRef

Multiple System Atrophy: Advances in Diagnosis and Therapy: Hirohisa Watanabe, Sayuri Shima, Yasuaki Mizutani, Akihiro Ueda, Mizuki Ito; J Mov Disord. 2023;16(1):13-21. Published online December 20, 2022; DOI: https://doi.org/10.14802/jmd.22082

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Abstract PDF

This review summarizes improvements in understanding the pathophysiology and early clinical symptoms of multiple system atrophy (MSA) and advancements in diagnostic methods and disease-modifying therapies for the condition. In 2022, the Movement Disorder Society proposed new diagnostic criteria to develop disease-modifying therapies and promote clinical trials of MSA since the second consensus was proposed in 2008. Regarding pathogenesis, cutting-edge findings have accumulated on the interactions of α-synuclein, neuroinflammation, and oligodendroglia with neurons. In neuroimaging, introducing artificial intelligence, machine learning, and deep learning has notably improved diagnostic accuracy and individual analyses. Advancements in treatment have also been achieved, including immunotherapy therapy against α-synuclein and serotonin-targeted and mesenchymal stem cell therapies, which are thought to affect several aspects of the disease, including neuroinflammation. The accelerated progress in clarifying the pathogenesis of MSA over the past few years and the development of diagnostic techniques for detecting early-stage MSA are expected to facilitate the development of disease-modifying therapies for one of the most intractable neurodegenerative diseases.

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A Blinded Evaluation of Brain Morphometry for Differential Diagnosis of Atypical Parkinsonism
Kazuya Kawabata, Florian Krismer, Beatrice Heim, Anna Hussl, Christoph Mueller, Christoph Scherfler, Elke R. Gizewski, Klaus Seppi, Werner Poewe
Movement Disorders Clinical Practice.2024; 11(4): 381. CrossRef
The potential of phosphorylated α‐synuclein as a biomarker for the diagnosis and monitoring of multiple system atrophy
Toufik Abdul‐Rahman, Ranferi Eduardo Herrera‐Calderón, Arjun Ahluwalia, Andrew Awuah Wireko, Tomas Ferreira, Joecelyn Kirani Tan, Maximillian Wolfson, Shankhaneel Ghosh, Viktoriia Horbas, Vandana Garg, Asma Perveen, Marios Papadakis, Ghulam Md Ashraf, Ath
CNS Neuroscience & Therapeutics.2024;[Epub] CrossRef
Delivering the diagnosis of multiple system atrophy: a multicenter survey on Japanese neurologists’ perspectives
Miki Yoshitake, Atsuhiko Sugiyama, Takayoshi Shimohata, Nobuyuki Araki, Masahide Suzuki, Kazumoto Shibuya, Kengo Nagashima, Nobutaka Hattori, Satoshi Kuwabara
BMC Neurology.2024;[Epub] CrossRef
Clinical comparison of the 2008 and 2022 diagnostic criteria for early multiple system atrophy-cerebellar type
Seoyeon Kim, Kyung Ah Woo, Jung Hwan Shin, Han-Joon Kim, Beomseok Jeon
Clinical Autonomic Research.2024; 34(6): 609. CrossRef
Ocular Vestibular-Evoked Myogenic Potential Assists in the Differentiation of Multiple System Atrophy From Parkinson’s Disease
Keun-Tae Kim, Kyoungwon Baik, Sun-Uk Lee, Euyhyun Park, Chan-Nyoung Lee, Tonghoon Woo, Yukang Kim, Seoui Kwag, Hyunsoh Park, Ji-Soo Kim
Journal of Movement Disorders.2024; 17(4): 398. CrossRef

Current Status and Future Perspectives on Stem Cell-Based Therapies for Parkinson’s Disease: Young Cha, Tae-Yoon Park, Pierre Leblanc, Kwang-Soo Kim; J Mov Disord. 2023;16(1):22-41. Published online January 12, 2023; DOI: https://doi.org/10.14802/jmd.22141

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Abstract PDF

Parkinson’s disease (PD) is the second most common neurodegenerative disorder after Alzheimer’s disease, affecting 1%–2% of the population over the age of 65. As the population ages, it is anticipated that the burden on society will significantly escalate. Although symptom reduction by currently available pharmacological and/or surgical treatments improves the quality of life of many PD patients, there are no treatments that can slow down, halt, or reverse disease progression. Because the loss of a specific cell type, midbrain dopamine neurons in the substantia nigra, is the main cause of motor dysfunction in PD, it is considered a promising target for cell replacement therapy. Indeed, numerous preclinical and clinical studies using fetal cell transplantation have provided proof of concept that cell replacement therapy may be a viable therapeutic approach for PD. However, the use of human fetal cells remains fraught with controversy due to fundamental ethical, practical, and clinical limitations. Groundbreaking work on human pluripotent stem cells (hPSCs), including human embryonic stem cells and human induced pluripotent stem cells, coupled with extensive basic research in the stem cell field offers promising potential for hPSC-based cell replacement to become a realistic treatment regimen for PD once several major issues can be successfully addressed. In this review, we will discuss the prospects and challenges of hPSC-based cell therapy for PD.

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RNA-based controllers for engineering gene and cell therapies
Kei Takahashi, Kate E Galloway
Current Opinion in Biotechnology.2024; 85: 103026. CrossRef
Precision Medicine in Parkinson's Disease Using Induced Pluripotent Stem Cells
Min Seong Kim, Hyesoo Kim, Gabsang Lee
Advanced Healthcare Materials.2024;[Epub] CrossRef
A recent update on drugs and alternative approaches for parkinsonism
Sneha Kispotta, Debajyoti Das, Shakti Ketan Prusty
Neuropeptides.2024; 104: 102415. CrossRef
Recent Research Trends in Neuroinflammatory and Neurodegenerative Disorders
Jessica Cohen, Annette Mathew, Kirk D. Dourvetakis, Estella Sanchez-Guerrero, Rajendra P. Pangeni, Narasimman Gurusamy, Kristina K. Aenlle, Geeta Ravindran, Assma Twahir, Dylan Isler, Sara Rukmini Sosa-Garcia, Axel Llizo, Alison C. Bested, Theoharis C. Th
Cells.2024; 13(6): 511. CrossRef
Continuous immunosuppression is required for suppressing immune responses to xenografts in non-human primate brains
Su Feng, Ting Zhang, Zhengxiao He, Wenchang Zhang, Yingying Chen, Chunmei Yue, Naihe Jing
Cell Regeneration.2024;[Epub] CrossRef
The role of neuroinflammation in neurodegenerative diseases: current understanding and future therapeutic targets
Alhamdu Adamu, Shuo Li, Fankai Gao, Guofang Xue
Frontiers in Aging Neuroscience.2024;[Epub] CrossRef
Past, present, and future of cell replacement therapy for parkinson’s disease: a novel emphasis on host immune responses
Tae-Yoon Park, Jeha Jeon, Young Cha, Kwang-Soo Kim
Cell Research.2024; 34(7): 479. CrossRef
Dopamine synthesis and transport: current and novel therapeutics for parkinsonisms
Mary Dayne Sia Tai, Gloria Gamiz-Arco, Aurora Martinez
Biochemical Society Transactions.2024; 52(3): 1275. CrossRef
Experimental models of Parkinson's disease: Challenges and Opportunities
Roshan Lal, Aditi singh, Shivam watts, Kanwaljit Chopra
European Journal of Pharmacology.2024; 980: 176819. CrossRef
The prospective role of mesenchymal stem cells in Parkinson's disease
Pratima Tambe, Vaishali Undale, Avinash Sanap, Ramesh Bhonde, Nishant Mante
Parkinsonism & Related Disorders.2024; 127: 107087. CrossRef
Current Landscape of iPSC Haplobanks
Rubén Escribá, Meral Beksac, Annelise Bennaceur-Griscelli, Joel C. Glover, Satu Koskela, Helen Latsoudis, Sergi Querol, Belén Alvarez-Palomo
Stem Cell Reviews and Reports.2024; 20(8): 2155. CrossRef
Circuit integration by transplanted human neurons
Qiang Yuan, Su-Chun Zhang
Current Opinion in Genetics & Development.2024; 89: 102225. CrossRef
The Abnormal Proliferation of Midbrain Dopamine Cells From Human Pluripotent Stem Cells Is Induced by Exposure to the Tumor Microenvironment
Jun Xue, Dongyan Wu, Yuting Bao, Yifan Wu, Xin Zhang, Liang Chen
CNS Neuroscience & Therapeutics.2024;[Epub] CrossRef
Potential for Therapeutic-Loaded Exosomes to Ameliorate the Pathogenic Effects of α-Synuclein in Parkinson’s Disease
David J. Rademacher
Biomedicines.2023; 11(4): 1187. CrossRef
Neural Stem Cell Therapies: Promising Treatments for Neurodegenerative Diseases
Amir Gholamzad, Hadis Sadeghi, Maryam Azizabadi Farahani, Ali Faraji, Mahya Rostami, Sajad Khonche, Shirin Kamrani, Mahsa Khatibi, Omid Moeini, Seyed Armit Hosseini, Mohammadmatin Nourikhani, Mehrdad Gholamzad
Neurology Letters.2023; 2(2): 55. CrossRef
Should continuous dopaminergic stimulation be a standard of care in advanced Parkinson’s disease?
Z. Pirtošek, V. Leta, P. Jenner, M. Vérin
Journal of Neural Transmission.2023; 130(11): 1395. CrossRef

Movement Disorders Associated With Radiotherapy and Surgical Procedures: Bharath Kumar Surisetti, Shweta Prasad, Vikram Venkappayya Holla, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal; J Mov Disord. 2023;16(1):42-51. Published online January 12, 2023; DOI: https://doi.org/10.14802/jmd.22092

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Abstract PDF

Occasionally, movement disorders can occur following interventional procedures including but not limited to radiotherapy, dental procedures, and cardiac, cerebral and spinal surgeries. The majority of these disorders tend to be unexpected sequelae with variable phenomenology and latency, and they can often be far more disabling than the primary disease for which the procedure was performed. Owing to poor knowledge and awareness of the problem, delays in diagnosing the condition are common, as are misdiagnoses as functional movement disorders. This narrative review discusses the phenomenology, pathophysiology, and potential treatments of various movement disorders caused by interventional procedures such as radiotherapy and neurological and non-neurological surgeries and procedures.

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Myoclonus: an update
Betsy Thomas, Steven J. Frucht
Current Opinion in Neurology.2024; 37(4): 421. CrossRef
Biofeedback Endurance Training for Gait Rehabilitation in Parkinson’s Disease: a Non-Randomized Controlled Study
Olga V. Guseva, Natalia G. Zhukova
Bulletin of Rehabilitation Medicine.2023; 22(6): 21. CrossRef

Viewpoints

Challenges in Parkinson’s Disease Care—In Light of the COVID-19 Pandemic: Kyung Ah Woo, Han-Joon Kim, Beomseok Jeon; J Mov Disord. 2023;16(1):52-54. Published online November 10, 2022; DOI: https://doi.org/10.14802/jmd.22085

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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

Mask on, Mask off: Subclinical Parkinson’s Disease Unveiled by COVID-19: Milan Beckers, Bastiaan R Bloem, Rick C Helmich; J Mov Disord. 2023;16(1):55-58. Published online November 10, 2022; DOI: https://doi.org/10.14802/jmd.22067

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The Last Straw: How Stress Can Unmask Parkinson’s Disease
Anouk van der Heide, Claudia Trenkwalder, Bastiaan R. Bloem, Rick C. Helmich
Journal of Parkinson's Disease.2024; 14(4): 889. CrossRef
SARS-CoV-2 and Parkinson’s Disease: A Review of Where We Are Now
Iro Boura, Mubasher A. Qamar, Francesco Daddoveri, Valentina Leta, Karolina Poplawska-Domaszewicz, Cristian Falup-Pecurariu, K. Ray Chaudhuri
Biomedicines.2023; 11(9): 2524. CrossRef

Original Articles

Association Between Gait and Dysautonomia in Patients With De Novo Parkinson’s Disease: Forward Gait Versus Backward Gait: Seon-Min Lee, Mina Lee, Eun Ji Lee, Rae On Kim, Yongduk Kim, Kyum-Yil Kwon; J Mov Disord. 2023;16(1):59-67. Published online September 7, 2022; DOI: https://doi.org/10.14802/jmd.22045

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Objective
Studies on gait and autonomic dysfunction have been insufficient so far, particularly de novo Parkinson’s disease (PD). The aim of this study was to identify the association between gait dynamics and autonomic dysfunction in patients with de novo PD.
Methods
A total 38 patients with de novo PD were retrospectively included in this study. Details of patients’ dysautonomia were assessed using the Scales for Outcomes in Parkinson’s Disease-Autonomic Dysfunction (SCOPA-AUT). For assessment of gait, a computerized gait analysis was performed using the GAITRite system for forward gait and backward gait. High SCOPA-AUT score (PD-HSAS) group and low SCOPA-AUT score (PD-LSAS) group were identified according to their SCOPA-AUT scores.
Results
Nineteen (50%) patients with high SCOPA-AUT scores above median value (12.5) were assigned into the PD-HSAS group and others were assigned to the PD-LSAS group. Compared with the PD-LSAS group, the PD-HSAS group exhibited slower gait, shorter stride, decreased cadence, increased double support phase, decreased swing phase, and increased variability in swing time. Total SCOPA-AUT score showed significantly positive correlations with gait variability and instability but a negative correlation with gait hypokinesia. In subdomain analysis, urinary dysautonomia was highly associated with impairment of gait dynamics. All significant results were found to be more remarkable in backward gait than in forward gait.
Conclusion
Our findings suggest that alteration in gait dynamics, especially backward gait, is highly associated with autonomic dysfunction in patients with de novo PD.

Citations

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Association between autonomic dysfunction with motor and non-motor symptoms in patients with Parkinson's disease
Yi Qin, De-Tao Meng, Zhao-Hui Jin, Wen-Jun Du, Bo-Yan Fang
Journal of Neural Transmission.2024; 131(4): 323. CrossRef
Determinants of Dual-task Gait Speed in Older Adults with and without Parkinson’s Disease
André Ivaniski-Mello, Vivian Torres Müller, Lucas de Liz Alves, Marcela Zimmermann Casal, Aline Nogueira Haas, Luca Correale, Ana Carolina Kanitz, Valéria Feijó Martins, Andréa Kruger Gonçalves, Flávia Gomes Martinez, Leonardo Alexandre Peyré-Tartaruga
International Journal of Sports Medicine.2023; 44(10): 744. CrossRef

Association of Depression With Early Occurrence of Postural Instability in Parkinson’s Disease: Yun Su Hwang, Sungyang Jo, Kye Won Park, Seung Hyun Lee, Sangjin Lee, Sun Ju Chung; J Mov Disord. 2023;16(1):68-78. Published online December 20, 2022; DOI: https://doi.org/10.14802/jmd.22091

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Abstract PDF Supplementary Material: Objective
Depression in Parkinson’s disease (PD) affects the quality of life of patients. Postural instability and gait disturbance are associated with the severity and prognosis of PD. We investigated the association of depression with axial involvement in early-stage PD patients.
Methods
This study involved 95 PD patients unexposed to antiparkinsonian drugs. After a baseline assessment for depression, the subjects were divided into a depressed PD group and a nondepressed PD group. Analyses were conducted to identify an association of depression at baseline with the following outcome variables: the progression to Hoehn and Yahr scale (H-Y) stage 3, the occurrence of freezing of gait (FOG), levodopa-induced dyskinesia, and wearing-off. The follow-up period was 53.40 ± 16.79 months from baseline.
Results
Kaplan–Meier survival curves for H-Y stage 3 and FOG showed more prominent progression to H-Y stage 3 and occurrences of FOG in the depressed PD group than in the nondepressed PD group (log-rank p = 0.025 and 0.003, respectively). Depression in drug-naïve, early-stage PD patients showed a significant association with the progression to H-Y stage 3 (hazard ratio = 2.55; 95% confidence interval = 1.32–4.93; p = 0.005), as analyzed by Cox regression analyses. In contrast, the occurrence of levodopa-induced dyskinesia and wearing-off did not differ between the two groups (log-rank p = 0.903 and 0.351, respectively).
Conclusion
Depression in drug-naïve, early-stage PD patients is associated with an earlier occurrence of postural instability. This suggests shared nondopaminergic pathogenic mechanisms and potentially enables the prediction of early development of postural instability.

The Effect of Blood Lipids, Type 2 Diabetes, and Body Mass Index on Parkinson’s Disease: A Korean Mendelian Randomization Study: Kye Won Park, Yun Su Hwang, Seung Hyun Lee, Sungyang Jo, Sun Ju Chung; J Mov Disord. 2023;16(1):79-85. Published online January 12, 2023; DOI: https://doi.org/10.14802/jmd.22175

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Abstract PDF Supplementary Material

Objective
Associations between various metabolic conditions and Parkinson’s disease (PD) have been previously identified in epidemiological studies. We aimed to investigate the causal effect of lipid levels, type 2 diabetes mellitus (T2DM), and body mass index (BMI) on PD in a Korean population via Mendelian randomization (MR).
Methods
Two-sample MR analyses were performed with inverse-variance weighted (IVW), weighted median, and MR-Egger regression approaches. We identified genetic variants associated with lipid concentrations, T2DM, and BMI in publicly available summary statistics, which were either collected from genome-wide association studies (GWASs) or from meta-analyses of GWAS that targeted only Korean individuals or East Asian individuals, including Korean individuals. The outcome dataset was a GWAS on PD performed in a Korean population.
Results
From previous GWASs and meta-analyses, we selected single nucleotide polymorphisms as the instrumental variables. Variants associated with serum levels of low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, and triglycerides, as well as with T2DM and BMI, were selected (n = 11, 19, 17, 89, and 9, respectively). There were no statistically significant causal associations observed between the five exposures and PD using either the IVW, weighted median, or MR-Egger methods (p-values of the IVW method: 0.332, 0.610, 0.634, 0.275, and 0.860, respectively).
Conclusion
This study does not support a clinically relevant causal effect of lipid levels, T2DM, and BMI on PD risk in a Korean population.

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Causal effect of systemic lupus erythematosus on psychiatric disorders: A two-sample Mendelian randomization study
Hua Xue, Shuangjuan Liu, Li Zeng, Wenhui Fan
Journal of Affective Disorders.2024; 347: 422. CrossRef
Causal relationship between diabetes mellitus, glycemic traits and Parkinson’s disease: a multivariable mendelian randomization analysis
Qitong Wang, Benchi Cai, Lifan Zhong, Jitrawadee Intirach, Tao Chen
Diabetology & Metabolic Syndrome.2024;[Epub] CrossRef
Association of Body Mass Index and Parkinson Disease
Cloé Domenighetti, Pierre-Emmanuel Sugier, Ashwin Ashok Kumar Sreelatha, Claudia Schulte, Sandeep Grover, Berta Portugal, Pei-Chen Lee, Patrick May, Dheeraj Bobbili, Milena Radivojkov Blagojevic, Peter Lichtner, Andrew B. Singleton, Dena Hernandez, Connor
Neurology.2024;[Epub] CrossRef
Causal association between common rheumatic diseases and arrhythmia: a Mendelian randomization study
Yuchen Zhang, Ling Tang, Ke Zhang, Xinai Meng, Tian Liu, Yanjia Chen, Xingfu Huang
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Unraveling the link: exploring the causal relationship between diabetes, multiple sclerosis, migraine, and Alzheimer’s disease through Mendelian randomization
Hua Xue, Li Zeng, Shuangjuan Liu
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Glycated hemoglobin A1c, cerebral small vessel disease burden, and disease severity in Parkinson's disease
Xinxin Ma, Shuhua Li, Fengzhi Liu, Yu Du, Haibo Chen, Wen Su
Annals of Clinical and Translational Neurology.2023; 10(12): 2276. CrossRef

Brief communication

Validity and Reliability of the Korean-Translated Version of the International Cooperative Ataxia Rating Scale in Cerebellar Ataxia: Jinse Park, Jin Whan Cho, Jinyoung Youn, Engseok Oh, Wooyoung Jang, Joong-Seok Kim, Yoon-Sang Oh, Hyungyoung Hwang, Chang-Hwan Ryu, Jin-Young Ahn, Jee-Young Lee, Seong-Beom Koh, Jae H. Park, Hee-Tae Kim; J Mov Disord. 2023;16(1):86-90. Published online December 20, 2022; DOI: https://doi.org/10.14802/jmd.22137

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Abstract PDF Supplementary Material: Objective
The International Cooperative Ataxia Rating Scale (ICARS) is a semiquantitative clinical scale for ataxia that is widely used in numerous countries. The purpose of this study was to investigate the validity and reliability of the Korean-translated version of the ICARS.
Methods
Eighty-eight patients who presented with cerebellar ataxia were enrolled. We investigated the construct validity using exploratory factor analysis (EFA) and confirmatory factor analysis (CFA). We also investigated the internal consistency using Cronbach’s α and intrarater and interrater reliability using intraclass correlation coefficients.
Results
The Korean-translated ICARS showed satisfactory construct validity using EFA and CFA. It also revealed good interrater and intrarater reliability and showed acceptable internal consistency. However, subscale 4 for assessing oculomotor disorder showed moderate internal consistency.
Conclusion
This is the first report to investigate the validity and reliability of the Korean-translated ICARS. Our results showed excellent construct and convergent validity. The reliability is also acceptable.

Case Report

A KMT2B Frameshift Variant Causing Focal Dystonia Restricted to the Oromandibular Region After Long-Term Follow-up: Alfand Marl F. Dy Closas, Katja Lohmann, Ai Huey Tan, Norlinah Mohamed Ibrahim, Jia Lun Lim, Yi Wen Tay, Kalai Arasu Muthusamy, Azlina Binti Ahmad-Annuar, Christine Klein, Shen-Yang Lim; J Mov Disord. 2023;16(1):91-94. Published online December 20, 2022; DOI: https://doi.org/10.14802/jmd.22109

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Abstract PDF Supplementary Material

KMT2B-linked dystonia (DYT-KMT2B) is a childhood-onset dystonia syndrome typically beginning in the lower limbs and progressing caudocranially to affect the upper limbs with eventual prominent craniocervical involvement. Despite its recent recognition, it now appears to be one of the more common monogenic causes of dystonia syndromes. Here, we present an atypical case of DYT-KMT2B with oromandibular dystonia as the presenting feature, which remained restricted to this region three decades after symptom onset. This appears to be the first reported case of DYT-KMT2B from Southeast Asia and provides further supporting evidence for the pathogenic impact of the KMT2B c.6210_6213delTGAG variant.

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Genetic Update and Treatment for Dystonia
Jan Koptielow, Emilia Szyłak, Olga Szewczyk-Roszczenko, Piotr Roszczenko, Jan Kochanowicz, Alina Kułakowska, Monika Chorąży
International Journal of Molecular Sciences.2024; 25(7): 3571. CrossRef
KMT2B-Related Dystonia in Indian Patients With Literature Review and Emphasis on Asian Cohort
Debjyoti Dhar, Vikram V Holla, Riyanka Kumari, Neeharika Sriram, Jitender Saini, Ravi Yadav, Akhilesh Pandey, Nitish Kamble, Babylakshmi Muthusamy, Pramod Kumar Pal
Journal of Movement Disorders.2023; 16(3): 285. CrossRef

Letters to the editor

Successful Treatment of Biphasic and Peak-dose Dyskinesia With Combined Unilateral Subthalamic Nucleus and Contralateral Globus Pallidus Interna Deep Brain Stimulation: Zhitong Zeng, Zhengyu Lin, Peng Huang, Halimureti Paerhati, Chencheng Zhang, Dianyou Li; J Mov Disord. 2023;16(1):95-97. Published online November 10, 2022; DOI: https://doi.org/10.14802/jmd.22081

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Task-Specific Drinking Tremor: Krisztina Benedek, Heidi Bryde Biernat, Carsten Eckhart Thomsen, Merete Bakke; J Mov Disord. 2023;16(1):98-100. Published online November 10, 2022; DOI: https://doi.org/10.14802/jmd.22103

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A mini-review of the pathophysiology of task-specific tremor: insights from electrophysiological and neuroimaging findings
Yih-Chih Jacinta Kuo, Kai-Hsiang Stanley Chen
Dystonia.2023;[Epub] CrossRef

Myoclonus-Dystonic Presentation of Childhood Onset DYT-GCH1: A Report From India: Praveen Sharma, Vikram V Holla, Sandeep Gurram, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal; J Mov Disord. 2023;16(1):101-103. Published online January 12, 2023; DOI: https://doi.org/10.14802/jmd.22106

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