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

Letter to the editor
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Dopamine Dysregulation Syndrome Presenting as Overuse of Mucuna pruriens Levodopa Supplement
David O. Sohutskay, Rachel M. Suen, Farwa Ali, David J. Rosenman
J Mov Disord. 2024;17(3):357-359.   Published online May 21, 2024
DOI: https://doi.org/10.14802/jmd.24067
  • 5,162 View
  • 88 Download
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Review Articles
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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
  • 5,015 View
  • 447 Download
  • 1 Crossref
AbstractAbstract PDF
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.

Citations

Citations to this article as recorded by  
  • 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
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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
  • 6,961 View
  • 321 Download
  • 10 Web of Science
  • 10 Crossref
AbstractAbstract 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

Citations to this article as recorded by  
  • 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
  • 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
    Neurogastroenterology & Motility.2024;[Epub]     CrossRef
  • 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
    Open Life Sciences.2024;[Epub]     CrossRef
  • 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
    Parkinsonism & Related Disorders.2024; 126: 107054.     CrossRef
  • 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
    Medicine.2024; 103(29): e38937.     CrossRef
  • 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
    Charles L. Mitchell, Dmitry Kurouski
    Frontiers in Molecular Neuroscience.2024;[Epub]     CrossRef
  • Advice to People with Parkinson’s in My Clinic: Probiotics and Prebiotics
    Jia Wei Hor, Tzi Shin Toh, Shen-Yang Lim, Ai Huey Tan
    Journal of Parkinson’s Disease.2024; 14(7): 1507.     CrossRef
  • Unmasking bowel obstruction in a Parkinson’s patient: the influence of cognitive bias in frailty medicine
    Harvey Stevenson, Daniele Ramsay, Waseem Jerjes
    Oxford Medical Case Reports.2024;[Epub]     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.2024;[Epub]     CrossRef
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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
  • 7,810 View
  • 559 Download
  • 6 Web of Science
  • 6 Crossref
AbstractAbstract 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.

Citations

Citations to this article as recorded by  
  • 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
  • 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
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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
  • 10,653 View
  • 602 Download
  • 20 Web of Science
  • 18 Crossref
AbstractAbstract 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.

Citations

Citations to this article as recorded by  
  • Nanotechnology in Parkinson’s Disease: overcoming drug delivery challenges and enhancing therapeutic outcomes
    Irfan Ali, Mohammad Adil, Mohammad Imran, Saba Asif Qureshi, Saima Qureshi, Nazeer Hasan, Farhan Jalees Ahmad
    Drug Delivery and Translational Research.2025;[Epub]     CrossRef
  • 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
  • Xeno-free generation of new Yazd human embryonic stem cell lines (Yazd4-7) as a prior stage toward good manufacturing practice of clinical-grade raw materials from discarded embryos: A lab resources report
    Fatemeh Hajizadeh-Tafti, Jalal Golzadeh, Fatemeh Akyash, Somayyeh-Sadat Tahajjodi, Ehsan Farashahi-Yazd, Hassan Heidarian-Meimandi, Behrouz Aflatoonian
    International Journal of Reproductive BioMedicine (IJRM).2023; 21(8): 619.     CrossRef
Brief communication
Article image
COVID-19 Vaccine-Related Movement Disorders: A Systematic Review
Grace Elysse D. Angeles, Lowrence Precious C. Dichoso, Roland Dominic G. Jamora
J Mov Disord. 2024;17(3):322-327.   Published online March 19, 2024
DOI: https://doi.org/10.14802/jmd.24001
  • 4,562 View
  • 165 Download
  • 2 Comments
AbstractAbstract PDFSupplementary Material
Objective
Since the release of vaccines against coronavirus disease 2019 (COVID-19), there have been reports of vaccine-related neurologic complications. This study aimed to perform a descriptive systematic review of movement disorders associated with COVID-19 vaccines.
Methods
We described the demographics, clinical presentation, management, outcomes, and proposed pathomechanism of the patients. A systematic review was performed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. A standardized tool was used to assess the quality of the cases.
Results
We identified 8 articles that met our inclusion criteria; these articles included 10 patients who developed movement disorders after vaccination. The majority were males (n = 8), with a median age of 64.5 years. The most common movement disorder was hemichorea. The rest presented with generalized chorea with myoclonus, cervical dystonia, and akathisia. Most patients respond to immunotherapy. The standardized tool used showed that most studies had a low risk of bias.
Conclusion
The reported incidence of vaccine-related movement disorders was low based on available published cases.
Review Articles
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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
  • 2,069 View
  • 180 Download
  • 1 Web of Science
  • 2 Comments
AbstractAbstract PDFSupplementary 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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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
  • 4,653 View
  • 436 Download
  • 4 Web of Science
  • 4 Crossref
AbstractAbstract 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

Citations to this article as recorded by  
  • 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
  • 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
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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
  • 5,748 View
  • 436 Download
  • 5 Web of Science
  • 6 Crossref
AbstractAbstract 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.

Citations

Citations to this article as recorded by  
  • 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
    Movement Disorders.2025;[Epub]     CrossRef
  • A Comparative Biochemical and Pathological Evaluation of Brain Samples from Knock-In Murine Models of Gaucher Disease
    Makaila L. Furderer, Bahafta Berhe, Tiffany C. Chen, Stephen Wincovitch, Xuntian Jiang, Nahid Tayebi, Ellen Sidransky, Tae-Un Han
    International Journal of Molecular Sciences.2024; 25(3): 1827.     CrossRef
  • Towards a Global View of Parkinson's Disease Genetics
    Marzieh Khani, Catalina Cerquera‐Cleves, Mariam Kekenadze, Peter Wild Crea, Andrew B. Singleton, Sara Bandres‐Ciga
    Annals of Neurology.2024; 95(5): 831.     CrossRef
  • Exploring the Association between Cathepsin B and Parkinson’s Disease
    Changhao Lu, Xinyi Cai, Shilin Zhi, Xiaofen Wen, Jiaxin Shen, Tommaso Ercoli, Elena Rita Simula, Carla Masala, Leonardo A. Sechi, Paolo Solla
    Brain Sciences.2024; 14(5): 482.     CrossRef
  • Clinical, mechanistic, biomarker, and therapeutic advances in GBA1-associated Parkinson’s disease
    Xuxiang Zhang, Heng Wu, Beisha Tang, Jifeng Guo
    Translational Neurodegeneration.2024;[Epub]     CrossRef
  • Microglia: roles and genetic risk in Parkinson’s disease
    Alex R. Trainor, Debra S. MacDonald, Jay Penney
    Frontiers in Neuroscience.2024;[Epub]     CrossRef
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Adult-Onset Genetic Leukoencephalopathies With Movement Disorders
Mu-Hui Fu, Yung-Yee Chang
J Mov Disord. 2023;16(2):115-132.   Published online March 7, 2023
DOI: https://doi.org/10.14802/jmd.22127
  • 7,223 View
  • 484 Download
  • 1 Web of Science
  • 1 Crossref
  • 1 Comments
AbstractAbstract PDF
Genetic leukoencephalopathies (GLEs) are a group of white matter abnormalities with heterogeneous radiological and phenotypic features. Although these conditions have mostly been described in children, adult-onset cases are increasingly recognized owing to the widespread use of neuroimaging and advances in molecular genetic testing. The disease course is often progressive with a varied spectrum of presentations, trapping neurologists in the dilemma of differential diagnosis. Movement disorders are among the most common symptoms, and their diversity makes diagnosis challenging. In this review, we focus on adult-onset GLEs with movement disorders and offer a step-by-step diagnostic approach by clarifying the phenomenology of movement, advising investigations for acquired causes, describing the clinical and radiological clues to each disease, emphasizing the limitations of advanced molecular testing, and discussing the future application of artificial intelligence. We provide a list summarizing the leukoencephalopathies associated with different categories of movement disorders. In addition to guiding clinicians on how to narrow the list of differential diagnoses with the tools currently available, another aim of this review is to emphasize the inevitable trend toward applying advanced technology in diagnosing these difficult diseases.

Citations

Citations to this article as recorded by  
  • A rare case of adult-onset vanishing white matter leukoencephalopathy with movement disorder, expressing homozygous EIF2B3 and PRKN pathogenic variants
    Bashar Kamal Ali Douden, Yazan Mohammad Abdullah Abufara, Mahmood Fayez Ali Aldrabeeh, Naela Ramadan Mohammad Tell, Ismail Abudaya
    BMC Neurology.2025;[Epub]     CrossRef
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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
J Mov Disord. 2025;18(1):17-30.   Published online December 26, 2024
DOI: https://doi.org/10.14802/jmd.24232
  • 700 View
  • 56 Download
  • 1 Comments
AbstractAbstract PDF
This review provides a comprehensive framework for the diagnostic approach and management of Huntington’s disease (HD) tailored to the Korean population. Key topics include genetic counseling, predictive testing, and reproductive options like preimplantation genetic testing. Strategies for assessing disease progression in premanifest HD through laboratory investigations, biofluid, and imaging biomarkers are highlighted. Special considerations for juvenile and late-onset HD, along with associated comorbidities like diabetes mellitus, hypertension, and cardiovascular abnormalities, are discussed. The guide emphasizes personalized symptom management, including pharmacotherapy, physical therapy, and nutritional support, while exploring emerging disease-modifying treatments. A multidisciplinary care model is advocated to improve outcomes for HD patients and caregivers in Korea.
Original Articles
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Polysomnographic Evaluation of Sleep Disorders in Essential Tremor and Essential Tremor Plus: A Comparison With Healthy Controls
Ravi Prakash Singh, Mythirayee S, Doniparthi Venkata Seshagiri, Gulshan Kumar, Rohan Mohale, Pramod Kumar Pal, Bindu M Kutty, Jitender Saini, Nitish L Kamble, Vikram Holla, Ravi Yadav
J Mov Disord. 2025;18(1):45-54.   Published online October 28, 2024
DOI: https://doi.org/10.14802/jmd.24191
  • 1,143 View
  • 83 Download
AbstractAbstract PDF
Objective
To explore sleep patterns in individuals with essential tremor (ET) and essential tremor plus (ET-Plus) compared with healthy controls and assess differences between ET and ET-Plus, given the lack of established polysomnography (PSG) data on these groups and the potential for sleep disturbances to serve as clinical markers.
Methods
We conducted a prospective cross-sectional study at National Institute of Mental Health and Neurosciences, Bengaluru, from November 2021 to August 2023 on 45 patients (26 ET, 19 ET-Plus) and 45 controls. Tremor severity was assessed using The Essential Tremor Rating Assessment Scale (TETRAS) and Fahn‐Tolosa‐Marin Clinical Rating Scale (FTMRS). Sleep symptoms were assessed via the Epworth Sleepiness Scale, Pittsburgh Sleep Quality Index, Mayo Sleep Questionnaire, restless legs syndrome questionnaire, Berlin questionnaire, Generalized Anxiety Disorder Scale 7, and Patient Health Questionnaire-9. All patients and controls underwent overnight video PSG. Sleep scoring was manually performed by a trained sleep research technician and the first author following the American Academy of Sleep Medicine (2017) guidelines, with data analyzed using R studio.
Results
Compared with ET-Plus patients, ET patients had a younger onset age (46.8±11.1 years versus 30.8±16.7 years, respectively). Compared with ET patients, ET-Plus patients had higher TETRAS and FTMRS scores (p<0.005). Compared with controls, both ET patients and ET-Plus patients presented poorer sleep quality, excessive daytime sleepiness, rapid eye movement (REM) sleep behavior disorder, and restless legs syndrome symptoms. PSG findings supported these clinical observations, showing an elevated apnea‒hypopnea index, reduced total sleep time, prolonged REM latency, decreased sleep efficiency, increased N1 stage duration, and reduced N2/N3 durations and percentages in patients versus controls.
Conclusion
The study highlights significant sleep architecture abnormalities in both ET and ET-Plus patients compared with healthy controls, with no differences between the ET groups.
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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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AbstractAbstract PDFSupplementary 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.
Viewpoint
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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
J Mov Disord. 2024;17(2):138-149.   Published online March 12, 2024
DOI: https://doi.org/10.14802/jmd.24040
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Original Article
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Video-Oculography for Enhancing the Diagnostic Accuracy of Early Oculomotor Dysfunction in Progressive Supranuclear Palsy
Harshad Chovatiya, Kanchana Pillai, Chakradhar Reddy, Amiya Thalakkattu, Ayana Avarachan, Manas Chacko, Asha Kishore
J Mov Disord. 2025;18(1):77-86.   Published online December 9, 2024
DOI: https://doi.org/10.14802/jmd.24171
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AbstractAbstract PDFSupplementary Material
Objective
Oculomotor impairment is an important diagnostic feature of progressive supranuclear palsy (PSP) and PSP subtypes. We assessed the role of video-oculography (VOG) in confirming clinically suspected slow saccades in PSP and differentiating PSP from Parkinson’s disease (PD). We also measured the correlation of both saccadic velocity and latency in PSP patients with scores on the PSP Rating Scale, Montreal Cognitive Assessment, and frontal assessment battery. We assessed the frequency of apraxia of eyelid opening (ALO) and reflex blepharospasm in PSP and PD patients.
Methods
A total of 112 PSP patients with slow saccades but not gaze palsy, 50 PD patients, and 50 healthy controls (HCs) were recruited. The Movement Disorders Society task force-PSP and PD criteria were used for the diagnoses. All the subjects underwent VOG.
Results
Horizontal and vertical saccadic velocities and latencies differentiated PSP patients from PD patients and HCs (p<0.001). Vertical saccadic velocity and latency accurately differentiated PSP with predominant parkinsonism (PSP-P) patients from PD patients (p<0.001 and 0.012, respectively). A couple of vertical and horizontal saccadic velocities differentiated PSP-Richardson’s syndrome (PSP-RS) patients from PSP-P patients (vertical velocity of left eye: p=0.024; horizontal velocity of right eye: p=0.030). In vertical gaze, the mean velocity cutoff showed good sensitivity and specificity in differentiating PSP patients from HCs and PD patients. Prolonged horizontal gaze latency was associated with more severe PSP and worse global cognitive and frontal dysfunction. ALO and reflex blepharospasm were observed only in PSP patients.
Conclusion
VOG is useful for confirming slow saccades in PSP-RS and PSP-P patients and for differentiating PSP-P patients from PD patients. Prolonged horizontal gaze latency was associated with more severe PSP and worse cognitive dysfunction. ALO and reflex blepharospasm were observed only in PSP patients.

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