Journal of Movement Disorders

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

Letter to the editor

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

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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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Abstract 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.

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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

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.

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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
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

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.

Citations

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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.

Citations

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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

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

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Abstract PDF Supplementary 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

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.

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
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

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.

Citations

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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

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

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Abstract 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.

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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

Original Article

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; J Mov Disord. 2024;17(4):398-407. Published online July 9, 2024; DOI: https://doi.org/10.14802/jmd.24120

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Abstract PDF Supplementary Material

Objective
Vestibular-evoked myogenic potentials (VEMPs) can help in assessing otolithic neural pathway in the brainstem, which may also contribute to the cardiovascular autonomic function. Parkinson’s disease (PD) is associated with altered VEMP responses; however, the associations between VEMP abnormalities and multiple system atrophy (MSA) remain unknown. Therefore, we compared the extent of otolith dysfunction using ocular (oVEMP) and cervical VEMPs between patients with MSA and PD.
Methods
We analyzed the clinical features, VEMP, and head-up tilt table test (HUT) findings using the Finometer in 24 patients with MSA and 52 with de novo PD who had undergone neurotologic evaluation at a referral-based university hospital in South Korea from January 2021 to March 2023.
Results
MSA was associated with bilateral oVEMP abnormalities (odds ratio [95% confidence interval] = 9.19 [1.77–47.76], p = 0.008). The n1–p1 amplitude was negatively correlated with the Unified Multiple System Atrophy Rating Scale I-II score in patients with MSA (r = -0.571, p = 0.033), whereas it did not correlate with the Movement Disorder Society-Unified Parkinson’s Disease Rating Scale-III score in patients with PD (r = -0.051, p = 0.687). The n1 latency was negatively correlated with maximum changes in systolic blood pressure within 15 s during HUT in patients with PD (r = -0.335, p = 0.040) but not in those with MSA (r = 0.277, p = 0.299).
Conclusion
Bilaterally abnormal oVEMP responses may indicate the extent of brainstem dysfunction in MSA. oVEMP reflects the integrity of otolith-autonomic interplay, reliably assists in differentiating between MSA and PD, and helps infer clinical decline.

Citations

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Selective otolithic dysfunction in patients presenting with acute spontaneous vertigo: consideration based on MRI
Keun-Tae Kim, Sangeun Park, Sun-Uk Lee, Euyhyun Park, Byungjun Kim, Ji-Soo Kim
Frontiers in Neurology.2024;[Epub] CrossRef

Viewpoint

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

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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Abstract PDF Supplementary 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.

Review Article

Fighting Against the Clock: Circadian Disruption and Parkinson’s Disease: Yen-Chung Chen, Wei-Sheng Wang, Simon J G Lewis, Shey-Lin Wu; J Mov Disord. 2024;17(1):1-14. Published online November 21, 2023; DOI: https://doi.org/10.14802/jmd.23216

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Abstract PDF

Circadian disruption is being increasingly recognized as a critical factor in the development and progression of Parkinson’s disease (PD). This review aims to provide an in-depth overview of the relationship between circadian disruption and PD by exploring the molecular, cellular, and behavioral aspects of this interaction. This review will include a comprehensive understanding of how the clock gene system and transcription–translation feedback loops function and how they are diminished in PD. The article also discusses the role of clock genes in the regulation of circadian rhythms, as well as the impact of clock gene dysregulation on mitochondrial function, oxidative stress, and neuroinflammation, including the microbiota-gut-brain axis, which have all been proposed as being crucial mechanisms in the pathophysiology of PD. Finally, this review highlights potential therapeutic strategies targeting the clock gene system and circadian rhythm for the treatment of PD.

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Diabetes mellitus and glymphatic dysfunction: Roles for oxidative stress, mitochondria, circadian rhythm, artificial intelligence, and imaging
Kenneth Maiese
World Journal of Diabetes.2025;[Epub] CrossRef

Original Article

Effect of Positional Changes on Cerebral Perfusion in Parkinson’s Disease Patients With Orthostatic Hypotension: Jae Young Joo, Dallah Yoo, Jae-Myoung Kim, Chaewon Shin, Tae-Beom Ahn; J Mov Disord. 2024;17(4):408-415. Published online September 9, 2024; DOI: https://doi.org/10.14802/jmd.24104

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Abstract PDF Supplementary Material

Objective
Orthostatic hypotension (OH) is one of the most common autonomic dysfunctions in Parkinson’s disease (PD) patients. However, many patients with OH are asymptomatic. Conversely, orthostatic dizziness (OD) is not always associated with OH. We investigated the effects of positional changes on cerebral perfusion in patients with PD and OH.
Methods
We enrolled 42 patients, comprising 31 PD patients and 11 healthy controls. All the subjects underwent the following clinical assessments: the OH questionnaire, head-up tilt test (HUTT) with transcranial Doppler (TCD), near-infrared spectroscopy, measurement of the change in oxygenated hemoglobin (ΔHb_oxy) during the squat-to-stand test (SST), measurement of the time derivative of total hemoglobin (DHb_tot), and time taken to reach the peak (peak time [PT]) of DHb_tot after restanding.
Results
The mean flow velocity change (ΔMFV) in the TCD during the HUTT failed to differentiate between the PD-OH(+) and PD-OH(-) groups. The change in oxygenated hemoglobin ΔHb_oxy was greater in the PD-OH(+) group, which persisted for 9 min until the end of the HUTT only in the left hemisphere. During SST, PT was significantly delayed in the left hemisphere in PD-OH(+) patients.
Conclusion
Although TCD demonstrated no significant difference in ΔMFV, the parameters measured by near-infrared spectroscopy, such as ΔHb_oxy during HUTT and PT during the SST, significantly increased ΔHb_oxy or delayed PT in the left hemisphere of PD-OH(+). Positional changes have a detrimental effect on cerebral hemodynamics in patients with PD and OH, especially in the left hemisphere.

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Citations to this article as recorded by

The current state of wearable device use in Parkinson's disease: a survey of individuals with Parkinson's
Siegfried Hirczy, Cyrus Zabetian, Yi-Han Lin
Frontiers in Digital Health.2024;[Epub] CrossRef

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