Journal of Movement Disorders

Most-download articles are from the articles published in 2023 during the last three month.

Review Articles

Functional Movement Disorders: Updates and Clinical Overview: Jung E Park; J Mov Disord. 2024;17(3):251-261. Published online July 1, 2024; DOI: https://doi.org/10.14802/jmd.24126

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Functional movement disorder (FMD) is a type of functional neurological disorder that is common but often difficult to diagnose or manage. FMD can present as various phenotypes, including tremor, dystonia, myoclonus, gait disorders, and parkinsonism. Conducting a clinical examination appropriate for assessing a patient with suspected FMD is important, and various diagnostic testing maneuvers may also be helpful. Treatment involving a multidisciplinary team, either outpatient or inpatient, has been found to be most effective. Examples of such treatment protocols are also discussed in this review. While recognition and understanding of the disorder has improved over the past few decades, as well as the development of treatments, it is not uncommon for patients and physicians to continue to experience various difficulties when dealing with this disorder. In this review, I provide a practical overview of FMD and discuss how the clinical encounter itself can play a role in patients’ acceptance of the diagnosis. Recent neuroimaging studies that aid in understanding the pathophysiology are also discussed.

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Reduced microstructural white matter integrity is associated with the severity of physical symptoms in functional neurological disorder
Nicolas Gninenko, Eliane Müller, Selma Aybek
NeuroImage: Clinical.2025; : 103791. CrossRef
Clinical insights into movement disorders in children: A review of etiology, diagnosis, and treatment options
Aron Christy, Ramya A
IP International Journal of Medical Paediatrics and Oncology.2024; 10(4): 103. CrossRef

Non-Motor Fluctuations in Parkinson’s Disease: Underdiagnosed Yet Important: Iro Boura, Karolina Poplawska-Domaszewicz, Cleanthe Spanaki, Rosabel Chen, Daniele Urso, Riaan van Coller, Alexander Storch, Kallol Ray Chaudhuri; J Mov Disord. 2025;18(1):1-16. Published online December 20, 2024; DOI: https://doi.org/10.14802/jmd.24227

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Abstract PDF

Non-motor fluctuations (NMFs) in Parkinson’s disease (PD) significantly affect patients’ well-being. Despite being identified over two decades ago, NMFs remain largely underrecognized, undertreated, and poorly understood. While they are often temporally associated with motor fluctuations (MFs) and can share common risk factors and pathophysiologic mechanisms, NMFs and MFs are currently considered distinct entities. The prevalence and severity of NMFs, often categorized into neuropsychiatric, sensory, and autonomic subtypes, vary significantly across studies due to the heterogeneous PD populations screened and the diverse evaluation tools applied. The consistent negative impact of NMFs on PD patients’ quality of life underscores the importance of further investigations via focused and controlled studies, validated assessment instruments and novel digital technologies. High-quality research is essential to illuminate the complex pathophysiology and clinical nuances of NMFs, ultimately enhancing clinicians’ diagnostic and treatment options in routine clinical practice.

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Managing non-motor symptoms of Parkinson disease in China: clinical perspectives
Jing Chen, Xiaotong Feng, Danhua Zhao, Baoyu Chen, Chaobo Bai, Qi Wang, Yuan Li, Junyi Chen, Xintong Guo, Jinjin Wang, Lin Zhang, Junliang Yuan
BMC Neurology.2025;[Epub] CrossRef
Post hoc exploratory analysis of the effect of foslevodopa/foscarbidopa continuous subcutaneous infusion on nocturia in patients with Parkinson’s disease
K. Ray Chaudhuri, Manon Bouchard, Eric Freire-Alvarez, Rajesh Pahwa, Lars Bergmann, Resmi Gupta, Pavnit Kukreja, Megha B. Shah, Stuart H. Isaacson
Clinical Parkinsonism & Related Disorders.2025; : 100330. CrossRef

Drug Repositioning and Repurposing for Disease-Modifying Effects in Parkinson’s Disease: Seong Ho Jeong, Phil Hyu Lee; J Mov Disord. 2025;18(2):113-126. Published online February 7, 2025; DOI: https://doi.org/10.14802/jmd.25008

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Abstract PDF: Parkinson’s disease (PD) is the second most prevalent neurodegenerative disorder and is characterized by progressive dopaminergic and nondopaminergic neuronal loss and the presence of Lewy bodies, which are primarily composed of aggregated α-synuclein. Despite advancements in symptomatic therapies, such as dopamine replacement and deep brain stimulation, no disease-modifying therapies (DMTs) have been identified to slow or arrest neurodegeneration in patients with PD. Challenges in DMT development include disease heterogeneity, the absence of reliable biomarkers, and the multifaceted pathophysiology of PD, encompassing neuroinflammation, mitochondrial dysfunction, lysosomal impairment, and oxidative stress. Drug repositioning and repurposing strategies using existing drugs for new therapeutic applications offer promising approaches to accelerate the development of DMTs for PD. These strategies minimize time, cost, and risk by using compounds with established safety profiles. Prominent candidates include glucagon-like peptide-1 receptor agonists, dipeptidyl peptidase-4 inhibitors, ambroxol, calcium channel blockers, statins, iron-chelating agents, c-Abl inhibitors, and memantine. Although preclinical and early clinical studies have demonstrated encouraging results, numerous phase III trials have yielded unfavorable outcomes, elucidating the complexity of PD pathophysiology and the need for innovative trial designs. This review evaluates the potential of prioritized repurposed drugs for PD, focusing on their mechanisms, preclinical evidence, and clinical trial outcomes, and highlights the ongoing challenges and opportunities in this field.

Original Article

Gait Instability and Compensatory Mechanisms in Parkinson’s Disease Patients With Camptocormia: An Exploratory Study: Hideyuki Urakami, Yasutaka Nikaido, Yuta Okuda, Yutaka Kikuchi, Ryuichi Saura, Yohei Okada; J Mov Disord. 2025;18(2):127-137. Published online December 27, 2024; DOI: https://doi.org/10.14802/jmd.24226

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Abstract PDF Supplementary Material: Objective
Camptocormia contributes to vertical gait instability and, at times, may also lead to forward instability in experimental settings in Parkinson’s disease (PD) patients. However, these aspects, along with compensatory mechanisms, remain largely unexplored. This study comprehensively investigated gait instability and compensatory strategies in PD patients with camptocormia (PD+CC).
Methods
Ten PD+CC patients, 30 without camptocormia (PD-CC), and 27 healthy controls (HCs) participated. Self-paced gait tasks were analyzed using three-dimensional motion capture systems to assess gait stability as well as spatiotemporal and kinematic parameters. Unique cases with pronounced forward gait stability or instability were first identified, followed by group comparisons. Correlation analysis was performed to examine associations between trunk flexion angles (lower/upper) and gait parameters. The significance level was set at 0.05.
Results
Excluding one unique case, the PD+CC group presented a significantly lower vertical center of mass (COM) position (p=0.019) increased mediolateral COM velocity (p=0.004) and step width (p=0.013), compared to the PD-CC group. Both PD groups presented greater anterior‒posterior margins of stability than did the HCs (p<0.001). Significant correlations were found between lower/upper trunk flexion angles and a lower vertical COM position (r=-0.690/-0.332), as well as increased mediolateral COM velocity (r=0.374/0.446) and step width (r=0.580/0.474).
Conclusion
Most PD+CC patients presented vertical gait instability, increased fall risk, and adopted compensatory strategies involving greater lateral COM shift and a wider base of support, with these trends intensifying as trunk flexion angles increased. These findings may guide targeted interventions for gait instability in PD+CC patients.

Letter to the editor

Levodopa Pharmacokinetics in Switching From Levodopa/Carbidopa Intestinal Gel to Continuous Subcutaneous Foslevodopa/Foscarbidopa Infusion in a Patient With Parkinson’s Disease: A Case Report: Tomonori Nukariya, Toshiki Tezuka, Shohei Okusa, Ryotaro Okochi, Yuto Sakai, Yoshihiro Nihei, Jin Nakahara, Morinobu Seki; J Mov Disord. 2025;18(2):179-181. Published online January 6, 2025; DOI: https://doi.org/10.14802/jmd.24247

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Cognitive and Psychiatric Adverse Effects of Foslevodopa/Foscarbidopa in Patients with Parkinson's Disease
Sacha Brohée, Emmanuel Roze, David Grabli, Hélène Letrillart, Lise Mantisi, Cendrine Foucard, Elodie Hainque, Florence Cormier, Aurélie Méneret, Fabien Hauw
Movement Disorders Clinical Practice.2025;[Epub] CrossRef

Review Articles

α-Synuclein: A Promising Biomarker for Parkinson’s Disease and Related Disorders: Taku Hatano, Ayami Okuzumi, Gen Matsumoto, Taiji Tsunemi, Nobutaka Hattori; J Mov Disord. 2024;17(2):127-137. Published online April 9, 2024; DOI: https://doi.org/10.14802/jmd.24075

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Abstract PDF

Mutations in the SNCA gene, which encodes α-synuclein (α-syn), play a key role in the development of genetic Parkinson’s disease (PD). α-Syn is a major component of Lewy bodies in PD and glial cytoplasmic inclusions in multiple system atrophy (MSA). Rapid eye movement sleep behavior disorder patients often progress to PD, dementia with Lewy bodies, or MSA, which are collectively known as α-synucleinopathies. The loss of dopaminergic neurons with Lewy bodies precedes motor dysfunction in these diseases, but the mechanisms of neurodegeneration due to α-syn aggregation are poorly understood. Monitoring α-syn aggregation in vivo could serve as a diagnostic biomarker and help elucidate pathogenesis, necessitating a simple and accurate detection method. Seed amplification assays (SAAs), such as real-time quaking-induced conversion and protein misfolding cyclic amplification, are used to detect small amounts of abnormally structured α-syn protofibrils, which are central to aggregation. These methods are promising for the early diagnosis of α-synucleinopathy. Differences in α-syn filament structures between α-synucleinopathies, as observed through transmission electron microscopy and cryo-electron microscopy, suggest their role in the pathogenesis of neurodegeneration. SAAs may differentiate between subtypes of α-synucleinopathy and other diseases. Efforts are also being made to identify α-syn from blood using various methods. This review introduces body fluid α-syn biomarkers based on pathogenic α-syn seeds, which are expected to redefine α-synucleinopathy diagnosis and staging, improving clinical research accuracy and facilitating biomarker development.

Citations

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Selective detection of alpha synuclein amyloid fibrils by faradaic and non-faradaic electrochemical impedance spectroscopic approaches
Hussaini Adam, Subash C.B. Gopinath, Hemavathi Krishnan, Tijjani Adam, Makram A. Fakhri, Evan T. Salim, A. Shamsher, Sreeramanan Subramaniam, Yeng Chen
Bioelectrochemistry.2025; 161: 108800. CrossRef
Evolving Landscape of Parkinson’s Disease Research: Challenges and Perspectives
Rumiana Tenchov, Janet M. Sasso, Qiongqiong Angela Zhou
ACS Omega.2025; 10(2): 1864. CrossRef
Seeding amplification assay: Limitations and insights for enhanced clinical and research applications
Ilham Y Abdi, Sara A Hashish, Omar A El-Agnaf
Journal of Parkinson’s Disease.2025;[Epub] CrossRef
Elucidating Pathological Mechanisms and Developing Biomarkers of Parkinson's Disease
Taku Hatano
Neurology and Clinical Neuroscience.2025;[Epub] CrossRef
Hypoxia Pathways in Parkinson’s Disease: From Pathogenesis to Therapeutic Targets
Yuanyuan Gao, Jiarui Zhang, Tuoxian Tang, Zhenjiang Liu
International Journal of Molecular Sciences.2024; 25(19): 10484. CrossRef
Circadian rhythm disruption: a potential trigger in Parkinson’s disease pathogenesis
Ke Xu, Yu Zhang, Yue Shi, Yake Zhang, Chengguang Zhang, Tianjiao Wang, Peizhu Lv, Yan Bai, Shun Wang
Frontiers in Cellular Neuroscience.2024;[Epub] CrossRef

Gastrointestinal Dysfunction in Parkinson’s Disease: Neuro-Gastroenterology Perspectives on a Multifaceted Problem: Ai Huey Tan, Kee Huat Chuah, Yuan Ye Beh, Jie Ping Schee, Sanjiv Mahadeva, Shen-Yang Lim; J Mov Disord. 2023;16(2):138-151. Published online May 24, 2023; DOI: https://doi.org/10.14802/jmd.22220

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Abstract PDF

Patients with Parkinson’s disease (PD) face a multitude of gastrointestinal (GI) symptoms, including nausea, bloating, reduced bowel movements, and difficulties with defecation. These symptoms are common and may accumulate during the course of PD but are often under-recognized and challenging to manage. Objective testing can be burdensome to patients and does not correlate well with symptoms. Effective treatment options are limited. Evidence is often based on studies in the general population, and specific evidence in PD is scarce. Upper GI dysfunction may also interfere with the pharmacological treatment of PD motor symptoms, which poses significant management challenges. Several new less invasive assessment tools and novel treatment options have emerged in recent years. The current review provides an overview and a practical approach to recognizing and diagnosing common upper and lower GI problems in PD, e.g., dyspepsia, gastroparesis, small bowel dysfunction, chronic constipation, and defecatory dysfunction. Management aspects are discussed based on the latest evidence from the PD and general populations, with insights for future research pertaining to GI dysfunction in PD.

Citations

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Lactiplantibacillus plantarum SG5 inhibits neuroinflammation in MPTP-induced PD mice through GLP-1/PGC-1α pathway
Yueyan Qi, Yuxuan Dong, Jinhu Chen, Siyou Xie, Xin Ma, Xueping Yu, Yang Yu, Yanqin Wang
Experimental Neurology.2025; 383: 115001. CrossRef
Gastrointestinal Dysfunction Bears on the Clinical‐Biological Profile of Parkinson's Disease
Jacopo Bissacco, Roberta Bovenzi, Matteo Conti, Clara Simonetta, Davide Mascioli, Rocco Cerroni, Giulia Maria Sancesario, Piergiorgio Grillo, Mariangela Pierantozzi, Alessandro Stefani, Nicola Biagio Mercuri, Marta Camacho, Tommaso Schirinzi
Movement Disorders Clinical Practice.2025; 12(4): 497. CrossRef
Leveraging animal models to understand non-motor symptoms of Parkinson's disease
Thomas Wichmann, Alexandra Nelson, Eileen Ruth S. Torres, Per Svenningsson, Roberta Marongiu
Neurobiology of Disease.2025; 208: 106848. CrossRef
The interrelationship between intestinal immune cells and enteric α-synuclein in the progression of Parkinson’s disease
Yuan-Kai Cheng, Hao-Sen Chiang
Neurological Sciences.2025;[Epub] CrossRef
Gastrointestinal Manifestations in Parkinson's Disease Using a Validated Arabic Version of Gastrointestinal Dysfunction Scale: A Multicenter Study
Ali Soliman Shalash, Marwa Yassien Badr, Yara Salah, Shimaa Elgamal, Shaimaa Ahmed Elaidy, Eman Abdel‐Mageed Elhamrawy, Hayam Abdel‐Tawab, Eman Hamid, Ehab Ahmed El‐Seidy, Noha Lotfy Dawood
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Vital nutrition: enhancing health in advanced Parkinson’s disease with device-aided therapies
Onanong Phokaewvarangkul, Ioanna Markaki, Harmen R. Moes, Igor Petrovic, Anette Schrag, Roongroj Bhidayasiri
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Association between cognitive and autonomic dysfunctions in patients with de novo Parkinson’s disease
Byung-Euk Joo, Jihwan You, Rae On Kim, Kyum-Yil Kwon
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Associations between gut microbiota characteristics and non‐motor symptoms following pharmacological and surgical treatments in Parkinson's disease patients
Agnieszka Gorecka‐Mazur, Anna Krygowska‐Wajs, Agata Furgala, Jiaqi Li, Benjamin Misselwitz, Wojciech Pietraszko, Borys Kwinta, Bahtiyar Yilmaz
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Clinical diagnosis, prevention, and treatment of neurodyspepsia syndrome using intelligent medicine
Jingyu Zhu, Wei Meng, Liang Liu, Peixin Hu, Yuling Liang, Wenwen Zhu, Xiaoyan Zhu
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Levodopa-induced dyskinesia in Parkinson's disease: Insights from cross-cohort prognostic analysis using machine learning
Rebecca Ting Jiin Loo, Olena Tsurkalenko, Jochen Klucken, Graziella Mangone, Fouad Khoury, Marie Vidailhet, Jean-Christophe Corvol, Rejko Krüger, Enrico Glaab, Geeta Acharya, Gloria Aguayo, Myriam Alexandre, Muhammad Ali, Wim Ammerlann, Giuseppe Arena, Mi
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Acupuncture for constipation in Parkinson’s disease: A systematic review and meta-analysis of randomized controlled trials
Zhao Li, Qun Niu, Kai Yang, Keni Zhao, Shao Yin, Fengya Zhu
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Alpha Synuclein Toxicity and Non-Motor Parkinson’s
Gabriella M. Mazzotta, Carmela Conte
Cells.2024; 13(15): 1265. CrossRef
Novel strategies in Parkinson’s disease treatment: a review
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Advice to People with Parkinson’s in My Clinic: Probiotics and Prebiotics
Jia Wei Hor, Tzi Shin Toh, Shen-Yang Lim, Ai Huey Tan
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Unmasking bowel obstruction in a Parkinson’s patient: the influence of cognitive bias in frailty medicine
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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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Integrative Analysis of Metabolome and Proteome in the Cerebrospinal Fluid of Patients with Multiple System Atrophy
Nimisha Pradeep George, Minjun Kwon, Yong Eun Jang, Seok Gi Kim, Ji Su Hwang, Sang Seop Lee, Gwang Lee
Cells.2025; 14(4): 265. CrossRef
Characteristics of cerebral glucose metabolism in patients with cognitive impairment in multiple system atrophy
Bin Chen, Lingchao Li, Lin Bai, Min Zhao, Ying Chang, Shi Gao
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Comparing a BCI communication system in a patient with Multiple System Atrophy, with an animal model
Brian Premchand, Kyaw Kyar Toe, Chuanchu Wang, Kai Rui Wan, Thevapriya Selvaratnam, Valerie Ethans Toh, Wai Hoe Ng, Camilo Libedinsky, Weiguo Chen, Ruiqi Lim, Ming-Yuan Cheng, Yuan Gao, Kai Keng Ang, Rosa Qi Yue So
Brain Research Bulletin.2025; 223: 111289. CrossRef
Trajectories of Pontine Volume in Patients with Multiple System Atrophy
Kazuya Kawabata, Florian Krismer, Mizuki Ito, Kazuhiro Hara, Epifanio Bagarinao, Vincent Beliveau, Patrice Péran, Germain Arribarat, Anne Pavy‐Le Traon, Wassilios G. Meissner, Alexandra Foubert‐Samier, Margherita Fabbri, Mark Forrest Gordon, Aya Ogura, Ma
Movement Disorders.2025;[Epub] CrossRef
Multiple System Atrophy (Cerebellar Type) With Overlapping Progressive Muscular Atrophy Features and Genetic Erb-B2 Receptor Tyrosine Kinase 4 (ERBB4) Amyotrophic Lateral Sclerosis Variant: A Case Report
Enrique Lorenzo C Panganiban, Raymond L Rosales
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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
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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
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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
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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
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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
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Original Article

The Association between the Triglyceride-Glucose Index and the Incidence Risk of Parkinson’s Disease: A Nationwide Cohort Study: Yoonkyung Chang, Ju-young Park, Ji Young Yun, Tae-Jin Song; J Mov Disord. 2025;18(2):138-148. Published online February 27, 2025; DOI: https://doi.org/10.14802/jmd.24131

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Abstract PDF: Objective
We aimed to investigate the associations of the triglyceride-glucose index, which measures insulin resistance, and the incidence of Parkinson’s disease.
Methods
Our study used the Health Screening Cohort database of the National Health Insurance Service of South Korea (2002–2019). We included 310,021 participants who had no previous history of Parkinson’s disease and for whom more than 3 triglyceride-glucose index measurements were available. A diagnosis of Parkinson’s disease was determined via the International Classification of Diseases Tenth edition (G20) with a specific reimbursement code for rare intractable diseases and a history of prescriptions for anti-Parkinsonism drugs.
Results
During a median of 9.64 years (interquartile range 8.72–10.53), 4,587 individuals (1.5%) had Parkinson’s disease. Based on a multivariable time-dependent Cox proportional hazards model, a per-unit increase in triglyceride-glucose index score was associated with a significantly increased risk of Parkinson’s disease (hazard ratio [HR]: 1.062; 95% confidence interval [CI] 1.007–1.119). In a sensitivity analysis, the triglyceride-glucose index was associated with the incidence of Parkinson’s disease in a non–diabetes mellitus cohort (HR: 1.093; 95% CI 1.025–1.165), but not in the diabetes mellitus cohort (HR: 0.990; 95% CI 0.902–1.087). In a restricted cubic spline analysis, the association between the triglyceride-glucose index and the incidence risk of Parkinson’s disease showed a nonlinear increasing (J-shaped) trend.
Conclusion
Our study demonstrated that higher triglyceride-glucose index scores were associated with the incidence of Parkinson’s disease in the general population, particularly in a nondiabetic mellitus cohort.

Letter to the editor

A Chinese Child With Dystonia Linked to the EIF2AK2 Missense Variant: A Case Report: Lifang Dai, Changhong Ren, Shenghan Guan, Xiaojuan Tian, Hui Xiong, Changhong Ding; J Mov Disord. 2025;18(2):190-192. Published online February 20, 2025; DOI: https://doi.org/10.14802/jmd.24215

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Review Articles

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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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
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Should continuous dopaminergic stimulation be a standard of care in advanced Parkinson’s disease?
Z. Pirtošek, V. Leta, P. Jenner, M. Vérin
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International Journal of Reproductive BioMedicine (IJRM).2023; 21(8): 619. CrossRef

GBA1 Variants and Parkinson’s Disease: Paving the Way for Targeted Therapy: Young Eun Huh, Tatiana Usnich, Clemens R. Scherzer, Christine Klein, Sun Ju Chung; J Mov Disord. 2023;16(3):261-278. Published online June 12, 2023; DOI: https://doi.org/10.14802/jmd.23023

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Abstract PDF

Glucosylceramidase beta 1 (GBA1) variants have attracted enormous attention as the most promising and important genetic candidates for precision medicine in Parkinson’s disease (PD). A substantial correlation between GBA1 genotypes and PD phenotypes could inform the prediction of disease progression and promote the development of a preventive intervention for individuals at a higher risk of a worse disease prognosis. Moreover, the GBA1-regulated pathway provides new perspectives on the pathogenesis of PD, such as dysregulated sphingolipid metabolism, impaired protein quality control, and disrupted endoplasmic reticulum-Golgi trafficking. These perspectives have led to the development of novel disease-modifying therapies for PD targeting the GBA1-regulated pathway by repositioning treatment strategies for Gaucher’s disease. This review summarizes the current hypotheses on a mechanistic link between GBA1 variants and PD and possible therapeutic options for modulating GBA1-regulated pathways in PD patients.

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Male sex accelerates cognitive decline in GBA1 Parkinson’s disease
Silvia Paola Caminiti, Micol Avenali, Alice Galli, Rachele Malito, Giada Cuconato, Caterina Galandra, Rosaria Calabrese, Andrea Pilotto, Alessandro Padovani, Fabio Blandini, Daniela Perani, Cristina Tassorelli, Enza Maria Valente
npj Parkinson's Disease.2025;[Epub] CrossRef
Classification and Genotype–Phenotype Relationships of GBA1 Variants: MDSGene Systematic Review
Malco Rossi, Susen Schaake, Tatiana Usnich, Josephine Boehm, Nina Steffen, Nathalie Schell, Clara Krüger, Tuğçe Gül‐Demirkale, Natascha Bahr, Teresa Kleinz, Harutyun Madoev, Björn‐Hergen Laabs, Ziv Gan‐Or, Roy N. Alcalay, Katja Lohmann, Christine Klein
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Challenges in Gaucher disease: Perspectives from an expert panel
Gregory A. Grabowski, Priya S. Kishnani, Roy N. Alcalay, S. Grace Prakalapakorn, Barry E. Rosenbloom, Dominick A. Tuason, Neal J. Weinreb
Molecular Genetics and Metabolism.2025; 145(1): 109074. CrossRef
Acetal functionalized iminosugars for targeting β-glucocerebrosidase modulation
Maria Giulia Davighi, Francesca Clemente, Camilla Matassini, Martina Cacciarini, Damiano Tanini, Andrea Goti, Amelia Morrone, Paolo Paoli, Francesca Cardona
European Journal of Medicinal Chemistry.2025; 290: 117529. CrossRef
Comparative analysis of methods for measuring glucocerebrosidase enzyme activity in patients with Parkinson’s disease with the GBA1 variant
Jin Hwangbo, Myung Jun Lee, Sang Jin Kim, Hyun Kyung Park, Jae-heyok Lee
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Evidence-Based Review on Symptomatic Management of Huntington’s Disease: Jung Hwan Shin, Hui-Jun Yang, Jong Hyun Ahn, Sungyang Jo, Seok Jong Chung, Jee-Young Lee, Hyun Sook Kim, Manho Kim; J Mov Disord. 2024;17(4):369-386. Published online August 9, 2024; DOI: https://doi.org/10.14802/jmd.24140; Correction in: J Mov Disord 2025;18(1):111

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Abstract PDF Supplementary Material

Huntington’s disease (HD) is a neurodegenerative disorder characterized by motor, behavioral, and cognitive impairments and significant impacts on patient quality of life. This evidence-based review, conducted by the Korean Huntington Disease Society task force, systematically examines current pharmacological and nonpharmacological interventions for symptomatic management of HD. Following PRISMA guidelines, databases were searched for studies up to August 2022 that focused on 23 symptoms across four domains: motor, neuropsychological, cognition, and others. This review provides a comprehensive and systematic approach to the management of HD, highlighting the need for more high-quality clinical trials to develop robust evidence-based guidelines.

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A Practical Guide for Diagnostic Investigations and Special Considerations in Patients With Huntington’s Disease in Korea
Jangsup Moon, Eungseok Oh, Minkyeong Kim, Ryul Kim, Dallah Yoo, Chaewon Shin, Jee-Young Lee, Jong-Min Kim, Seong-Beom Koh, Manho Kim, Beomseok Jeon
Journal of Movement Disorders.2025; 18(1): 17. CrossRef

Original Articles

Efficacy and Safety of Taltirelin Hydrate in Patients With Ataxia Due to Spinocerebellar Degeneration: Jin Whan Cho, Jee-Young Lee, Han-Joon Kim, Joong-Seok Kim, Kun-Woo Park, Seong-Min Choi, Chul Hyoung Lyoo, Seong-Beom Koh; J Mov Disord. 2025;18(1):35-44. Published online October 21, 2024; DOI: https://doi.org/10.14802/jmd.24127

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Abstract PDF Supplementary Material: Objective
We conducted this study to assess the efficacy and safety of taltirelin hydrate (TH) in patients with ataxia due to spinocerebellar degeneration (SCD).
Methods
Patients were randomly assigned to either the taltirelin group (5 mg orally, twice daily) or the control group. The primary endpoint was the change in the Korean version of the Scale for the Assessment and Rating of Ataxia (K-SARA) score at 24 weeks. The secondary endpoints included changes in the K-SARA score at 4 and 12 weeks as well as the Clinical Global Impression Scale, the five-level version of the EuroQol five-dimensional questionnaire, the Tinetti balance test, and gait analysis at 4, 12, and 24 weeks.
Results
A total of 149 patients (hereditary:nonhereditary=86:63) were enrolled. There were significant differences in the change in the K-SARA score at 24 weeks from baseline between the taltirelin group and the control group (-0.51±2.79 versus 0.36±2.62, respectively; p=0.0321). For the K-SARA items, the taltirelin group had significantly lower “Stance” and “Speech disturbance” subscores than the control group (-0.04±0.89 versus 0.23±0.79 and -0.07±0.74 versus 0.18±0.67; p=0.0270 and 0.0130, respectively). However, there were no significant differences in changes in other secondary efficacy outcome measures at 24 weeks from baseline between the two treatment arms (p>0.05).
Conclusion
Clinicians might consider the use of TH in the treatment of patients with ataxia due to SCD.

Feasibility of a Multidomain Intervention for Safe Mobility in People With Parkinson’s Disease and Recurrent Falls: Natalie E Allen, Lina Goh, Colleen G Canning, Catherine Sherrington, Lindy Clemson, Jacqueline CT Close, Stephen R Lord, Simon J G Lewis, Simone Edwards, Susan Harkness, Roslyn Savage, Lyndell Webster, Genevieve Zelma, Serene S Paul; J Mov Disord. 2025;18(2):149-159. Published online March 14, 2025; DOI: https://doi.org/10.14802/jmd.24237

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Abstract PDF: Objective
Mobility limitations and falls are common in people with Parkinson’s disease (PwP). Compared with exercise alone, a tailored, multidomain intervention has the potential to be more effective in improving mobility safety and preventing falls. This study aimed to explore the feasibility and potential effectiveness of a multidomain fall prevention intervention (Integrate) designed for PwP who experience frequent falls.
Methods
The home-based intervention was delivered over a span of 6 months by occupational therapists and physiotherapists. The personalized intervention included home fall hazard reduction, exercise, and safer mobility behavior training. The participants received 8 to 12 home visits and were supported by care-partners (when necessary) to participate in the intervention.
Results
Twenty-nine people (recruitment rate: 49%; drop-out rate: 10%) with moderate to advanced Parkinson’s disease, a history of recurrent falls, and mild to moderate cognitive impairment participated in the study, with 26 people completing the study. A moderate-to-high adherence to the intervention was observed, and there were no adverse events related to the intervention. Twenty-one (81%) participants met or exceeded their safer mobility goal based on the Goal Attainment Scale. The participants exhibited a median 1.0-point clinically meaningful improvement according to the Short Physical Performance Battery. An exploratory analysis revealed that fall rates were reduced by almost 50% in the 6-month follow-up period (incidence rate ratio: 0.51; 95% confidence interval 0.28–0.92).
Conclusion
A multidomain occupational therapy and physiotherapy intervention for PwP experiencing recurrent falls was feasible and appeared to improve mobility safety. A randomized trial powered to detect the effects of the intervention on falls and mobility is warranted.

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