Journal of Movement Disorders

From articles published in Journal of Movement Disorders during the past two years (2023 ~ ).

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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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
Emerging Role of Mesenchymal Stromal Cell and Exosome Therapies in Treating Cognitive Impairment
Vick Key Tew, Muttiah Barathan, Fazlina Nordin, Jia Xian Law, Min Hwei Ng
Pharmaceutics.2025; 17(3): 284. CrossRef
Advantages and challenges of using allogeneic vs. autologous sources for neuronal cell replacement in Parkinson’s disease: Insights from non-human primate studies
Marina E. Emborg, Jeanette M. Metzger, Kevin D’Amour, Julia C. Colwell, Lindsey C. Neumann, Ai Zhang, Howard J. Federoff
Brain Research Bulletin.2025; 224: 111297. CrossRef
Stem Cell-Based Approaches in Parkinson's Disease Research
Min Seong Kim, Subeen Yoon, Jiwoo Choi, Yong Jun Kim, Gabsang Lee
International Journal of Stem Cells.2025; 18(1): 21. CrossRef
Central and Peripheral Immunity Responses in Parkinson’s Disease: An Overview and Update
Ghaidaa Ebrahim, Hunter Hutchinson, Melanie Gonzalez, Abeer Dagra
Neuroglia.2025; 6(2): 17. 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

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

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Abstract PDF

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

Citations

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Cognitive impairment in Parkinson’s disease and other parkinsonian syndromes
Alexandros Giannakis, Chrissa Sioka, Eugenia Kloufetou, Spiridon Konitsiotis
Journal of Neural Transmission.2025; 132(3): 341. CrossRef
The Relationship Between Subjective Cognitive Complaints, Invalid Symptom Reporting, and Neurocognitive Test Performance Validity Among Adults Being Evaluated for ADHD
Matthew S. Phillips, Nataliya Turchmanovych-Hienkel, Mira I. Leese, Brian Ramanauskas, Hannah B. VanLandingham, Christopher Gonzalez, Gabriel P. Ovsiew, Anthony D. Robinson, Brian M. Cerny, Devin M. Ulrich, Jason R. Soble
Journal of Psychiatric Practice.2025; 31(1): 13. CrossRef
The Multifactorial Memory Questionnaire and Quality of Life: A Longitudinal Study in Parkinson’s Disease
Emily J. Corti, Natalie Gasson, Hayley Grant, Brayden Wisniewski, Andrea M. Loftus
Brain Sciences.2025; 15(1): 66. CrossRef
Heterogeneity of cognitive progression and clinical predictors in Parkinson’s disease–subjective cognitive decline
Jon Rodríguez-Antigüedad, Saül Martínez-Horta, Arnau Puig-Davi, Andrea Horta-Barba, Javier Pagonabarraga, Teresa de Deus Fonticoba, Silvia Jesús, Marina Cosgaya, Juan García Caldentey, María Asunción Ávila-Rivera, Nuria Caballol, Inés Legarda, Jorge Herná
Journal of Neurology.2025;[Epub] CrossRef
Daily Emotional Experiences in Persons with Parkinson Disease: Relations to Subjective Cognitive Complaints and Quality of Life
Karen R. Hebert, Mackenzie Feldhacker
Physical & Occupational Therapy In Geriatrics.2024; 42(3): 228. CrossRef
Subjective Cognitive Complaints in Parkinson's Disease: A Systematic Review and Meta‐Analysis
Mattia Siciliano, Alessandro Tessitore, Francesca Morgante, Jennifer G. Goldman, Lucia Ricciardi
Movement Disorders.2024; 39(1): 17. CrossRef
Mild cognitive impairment in Parkinson's disease: current view
Kurt A. Jellinger
Frontiers in Cognition.2024;[Epub] CrossRef
Neurocognitive Impairment and Social Cognition in Parkinson’s Disease Patients
Triantafyllos Doskas, Konstantinos Vadikolias, Konstantinos Ntoskas, George D. Vavougios, Dimitrios Tsiptsios, Polyxeni Stamati, Ioannis Liampas, Vasileios Siokas, Lambros Messinis, Grigorios Nasios, Efthimios Dardiotis
Neurology International.2024; 16(2): 432. CrossRef
Cognitive disorders in Parkinson's disease
Victor Kholin, Iryna Karaban, Sergiy Kryzhanovskiy, Nina Karasevich, Natalia Melnik, Maryna Khodakovska, Hanna Shershanova, Natalia Movchun
Ageing & Longevity.2024; (2 2024): 51. CrossRef
Unveiling the role of subjective cognitive complaints in predicting cognitive impairment in Parkinson´s Disease– A longitudinal study with 4 year of follow up
Marta Magriço, Bruna Meira, Marco Fernandes, Manuel Salavisa, Marlene Saraiva, Cláudia Borbinha, João Pedro Marto, Raquel Barbosa, Paulo Bugalho
Neurological Sciences.2024; 45(11): 5271. CrossRef
Self‐ and study partner–reported cognitive decline in older adults without dementia: The role of α‐synuclein and amyloid biomarkers in the Alzheimer's Disease Neuroimaging Initiative
Kelsey R. Thomas, Katherine J. Bangen, Lindsay J. Rotblatt, Alexandra J. Weigand, Lauren Edwards, Duygu Tosun, Douglas Galasko
Alzheimer's & Dementia.2024; 20(11): 7777. CrossRef
Mitochondrial Dysfunction in Parkinson’s Disease: A Contribution to Cognitive Impairment?
Antonella Scorziello, Rossana Sirabella, Maria Josè Sisalli, Michele Tufano, Lucia Giaccio, Elena D’Apolito, Lorenzo Castellano, Lucio Annunziato
International Journal of Molecular Sciences.2024; 25(21): 11490. CrossRef
Total burden of cerebral small vessel disease predict subjective cognitive decline in patients with Parkinson’s disease
Wenchao Qiu, Weili Hu, Yingchao Ge, Peiting Liu, Minghui Zhao, Haifeng Lu, Jian Tao, Shouru Xue
Frontiers in Aging Neuroscience.2024;[Epub] CrossRef
Association of Neuropsychiatric Symptom Profiles With Cognitive Decline in Patients With Parkinson Disease and Mild Cognitive Impairment
Young-gun Lee, Mincheol Park, Seong Ho Jeong, Kyoungwon Baik, Sungwoo Kang, So Hoon Yoon, Han Kyu Na, Young H. Sohn, Phil Hyu Lee
Neurology.2023;[Epub] CrossRef
Subjective cognitive complaints in patients with progressive supranuclear palsy
Jun Seok Lee, Jong Hyeon Ahn, Jong Mok Ha, Jinyoung Youn, Jin Whan Cho
Frontiers in Neurology.2023;[Epub] CrossRef
Pathobiology of Cognitive Impairment in Parkinson Disease: Challenges and Outlooks
Kurt A. Jellinger
International Journal of Molecular Sciences.2023; 25(1): 498. CrossRef

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
Movement Disorders Clinical Practice.2025;[Epub] CrossRef
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
Journal of Neural Transmission.2025;[Epub] CrossRef
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
Scientific Reports.2025;[Epub] 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
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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
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
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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

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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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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
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Comparative analysis of methods for measuring glucocerebrosidase enzyme activity in patients with Parkinson’s disease with the GBA1 variant
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Exploring the Association between Cathepsin B and Parkinson’s Disease
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Viewpoint

Potential Benefits and Perils of Incorporating ChatGPT to the Movement Disorders Clinic: Andres Deik; J Mov Disord. 2023;16(2):158-162. Published online May 24, 2023; DOI: https://doi.org/10.14802/jmd.23072

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“The Machine Will See You Now”: A Clinician's Perspective on Artificial “Intelligence” In Clinical Care
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Artificial Intelligence‐Based Virtual Assistant for the Diagnostic Approach of Chronic Ataxias
Lucas Alessandro, Nicolas Bianciotti, Luciana Salama, Santiago Volmaro, Veronica Navarrine, Lucia Ameghino, Julieta Arena, Santiago Bestoso, Veronica Bruno, Sergio Castillo Torres, Mauricio Chamorro, Blas Couto, Tomas De La Riestra, Florencia Echeverria,
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Review Article

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
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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
Cureus.2025;[Epub] 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

Original Article

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

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

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Genetic evidence for the liver-brain axis: lipid metabolism and neurodegenerative disease risk
Zeyu Wang, Zixiao Yin, Guangyong Sun, Dong Zhang, Jianguo Zhang
Lipids in Health and Disease.2025;[Epub] CrossRef
Causal effect of systemic lupus erythematosus on psychiatric disorders: A two-sample Mendelian randomization study
Hua Xue, Shuangjuan Liu, Li Zeng, Wenhui Fan
Journal of Affective Disorders.2024; 347: 422. CrossRef
Causal relationship between diabetes mellitus, glycemic traits and Parkinson’s disease: a multivariable mendelian randomization analysis
Qitong Wang, Benchi Cai, Lifan Zhong, Jitrawadee Intirach, Tao Chen
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Association of Body Mass Index and Parkinson Disease
Cloé Domenighetti, Pierre-Emmanuel Sugier, Ashwin Ashok Kumar Sreelatha, Claudia Schulte, Sandeep Grover, Berta Portugal, Pei-Chen Lee, Patrick May, Dheeraj Bobbili, Milena Radivojkov Blagojevic, Peter Lichtner, Andrew B. Singleton, Dena Hernandez, Connor
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Hua Xue, Li Zeng, Shuangjuan Liu
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Glycated hemoglobin A1c, cerebral small vessel disease burden, and disease severity in Parkinson's disease
Xinxin Ma, Shuhua Li, Fengzhi Liu, Yu Du, Haibo Chen, Wen Su
Annals of Clinical and Translational Neurology.2023; 10(12): 2276. CrossRef

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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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.

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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
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Seeding amplification assay: Limitations and insights for enhanced clinical and research applications
Ilham Y Abdi, Sara A Hashish, Omar A El-Agnaf
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Elucidating Pathological Mechanisms and Developing Biomarkers of Parkinson's Disease
Taku Hatano
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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
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A Brief History of NBIA Gene Discovery: Susan J. Hayflick; J Mov Disord. 2023;16(2):133-137. Published online April 26, 2023; DOI: https://doi.org/10.14802/jmd.23014

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Abstract PDF

Neurodegenerative disorders associated with high basal ganglia iron are known by the overarching term of ‘NBIA’ disorders or ‘neurodegeneration with brain iron accumulation’. Discovery of their individual genetic bases was greatly enabled by the collection of DNA and clinical data in just a few centers. With each discovery, the remaining idiopathic disorders could be further stratified by common clinical, radiographic or pathological features to enable the next hunt. This iterative process, along with strong and open collaborations, enabled the discoveries of PANK2, PLA2G6, C19orf12, FA2H, WDR45, and COASY gene mutations as underlying PKAN, PLAN, MPAN, FAHN, BPAN, and CoPAN, respectively. The era of Mendelian disease gene discovery is largely behind us, but the history of these discoveries for the NBIA disorders has not yet been told. A brief history is offered here.

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Metabolic impairments in neurodegeneration with brain iron accumulation
Agata Wydrych, Barbara Pakuła, Justyna Janikiewicz, Aneta M. Dobosz, Patrycja Jakubek-Olszewska, Marta Skowrońska, Iwona Kurkowska-Jastrzębska, Maciej Cwyl, Mariola Popielarz, Paolo Pinton, Barbara Zavan, Agnieszka Dobrzyń, Magdalena Lebiedzińska-Arciszew
Biochimica et Biophysica Acta (BBA) - Bioenergetics.2025; 1866(1): 149517. CrossRef
Iron metabolism and ferroptosis in health and diseases: The crucial role of mitochondria in metabolically active tissues
Angela Catapano, Fabiano Cimmino, Lidia Petrella, Amelia Pizzella, Margherita D'Angelo, Katia Ambrosio, Francesca Marino, Annarita Sabbatini, Massimiliano Petrelli, Barbara Paolini, Lucio Lucchin, Gina Cavaliere, Luigia Cristino, Marianna Crispino, Giovan
The Journal of Nutritional Biochemistry.2025; 140: 109888. CrossRef
Fibroblasts and hiPS‐Derived Astrocytes From CoPAN Patients Showed Different Levels of Iron Overload Correlated With Senescent Phenotype
Anna Cozzi, Paolo Santambrogio, Andrea Stefano Moro, Alessio Pelagatti, Alicia Rubio, Chiara Balestrucci, Ivano Di Meo, Valeria Tiranti, Sonia Levi
Glia.2025;[Epub] CrossRef
Mitochondrial iron deficiency triggers cytosolic iron overload in PKAN hiPS-derived astrocytes
Paolo Santambrogio, Anna Cozzi, Chiara Balestrucci, Maddalena Ripamonti, Valeria Berno, Eugenia Cammarota, Andrea Stefano Moro, Sonia Levi
Cell Death & Disease.2024;[Epub] CrossRef
Iron Dyshomeostasis in Neurodegeneration with Brain Iron Accumulation (NBIA): Is It the Cause or the Effect?
Francesco Agostini, Bibiana Sgalletta, Marco Bisaglia
Cells.2024; 13(16): 1376. CrossRef
COASY Protein-Associated Neurodegeneration: Report from India
Rohan R. Mahale, Raviprakash Singh, Pavankumar Katragadda, Hansashree Padmanabha
Annals of Indian Academy of Neurology.2023; 26(5): 834. CrossRef

Ultrastructures of α-Synuclein Filaments in Synucleinopathy Brains and Experimental Models: Airi Tarutani, Masato Hasegawa; J Mov Disord. 2024;17(1):15-29. Published online November 22, 2023; DOI: https://doi.org/10.14802/jmd.23213

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Abstract PDF

Intracellular α-synuclein (α-syn) inclusions are a neuropathological hallmark of Lewy body disease (LBD) and multiple system atrophy (MSA), both of which are termed synucleinopathies. LBD is defined by Lewy bodies and Lewy neurites in neurons, while MSA displays glial cytoplasmic inclusions in oligodendrocytes. Pathological α-syn adopts an ordered filamentous structure with a 5–10 nm filament diameter, and this conformational change has been suggested to be involved in the disease onset and progression. Synucleinopathies also exhibit characteristic ultrastructural and biochemical properties of α-syn filaments, and α-syn strains with distinct conformations have been identified. Numerous experimental studies have supported the idea that pathological α-syn self-amplifies and spreads throughout the brain, during which processes the conformation of α-syn filaments may drive the disease specificity. In this review, we summarize the ultrastructural features and heterogeneity of α-syn filaments in the brains of patients with synucleinopathy and in experimental models of seeded α-syn aggregation.

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Positron emission tomography tracers for synucleinopathies
Jie Xiang, Zhentao Zhang, Shengxi Wu, Keqiang Ye
Molecular Neurodegeneration.2025;[Epub] CrossRef
Correlative light and electron microscopy imaging of proteinaceous deposits in cell cultures and brain tissues
Peizhou Jiang, Dennis W. Dickson
Acta Neuropathologica Communications.2025;[Epub] CrossRef
Liganded magnetic nanoparticles for magnetic resonance imaging of α-synuclein
Hope Pan, Melinda Balbirnie, Ke Hou, Naomi S. Sta Maria, Shruti Sahay, Paul Denver, Stefano Lepore, Mychica Jones, Xiaohong Zuo, Chunni Zhu, Hilda Mirbaha, Hedieh Shahpasand-Kroner, Marisa Mekkittikul, Jiahui Lu, Carolyn J. Hu, Xinyi Cheng, Romany Abskhar
npj Parkinson's Disease.2025;[Epub] CrossRef
α-Synuclein: A Promising Biomarker for Parkinson’s Disease and Related Disorders
Taku Hatano, Ayami Okuzumi, Gen Matsumoto, Taiji Tsunemi, Nobutaka Hattori
Journal of Movement Disorders.2024; 17(2): 127. CrossRef
Exploring the Potential of Biomimetic Peptides in Targeting Fibrillar and Filamentous Alpha-Synuclein—An In Silico and Experimental Approach to Parkinson’s Disease
Sophia A. Frantzeskos, Mary A. Biggs, Ipsita A. Banerjee
Biomimetics.2024; 9(11): 705. CrossRef

Original Article

Caregiver Burden of Patients With Huntington’s Disease in South Korea: Chan Young Lee, Chaewon Shin, Yun Su Hwang, Eungseok Oh, Manho Kim, Hyun Sook Kim, Sun Ju Chung, Young Hee Sung, Won Tae Yoon, Jin Whan Cho, Jae-Hyeok Lee, Han-Joon Kim, Hee Jin Chang, Beomseok Jeon, Kyung Ah Woo, Seong-Beom Koh, Kyum-Yil Kwon, Jangsup Moon, Young Eun Kim, Jee-Young Lee; J Mov Disord. 2024;17(1):30-37. Published online September 11, 2023; DOI: https://doi.org/10.14802/jmd.23134

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Objective
This is the first prospective cohort study of Huntington’s disease (HD) in Korea. This study aimed to investigate the caregiver burden in relation to the characteristics of patients and caregivers.
Methods
From August 2020 to February 2022, we enrolled patients with HD from 13 university hospitals in Korea. We used the 12-item Zarit Burden Interview (ZBI-12) to evaluate the caregiver burden. We evaluated the clinical associations of the ZBI-12 scores by linear regression analysis and investigated the differences between the low- and high-burden groups.
Results
Sixty-five patients with HD and 45 caregivers were enrolled in this cohort study. The average age at onset of motor symptoms was 49.3 ± 12.3 years, with an average cytosine-adenine-guanine (CAG)n of 42.9 ± 4.0 (38–65). The median ZBI-12 score among our caregivers was 17.6 ± 14.2. A higher caregiver burden was associated with a more severe Shoulson–Fahn stage (p = 0.038) of the patients. A higher ZBI-12 score was also associated with lower independence scale (B = -0.154, p = 0.006) and functional capacity (B = -1.082, p = 0.002) scores of patients. The caregiving duration was longer in the high- than in the low-burden group. Caregivers’ demographics, blood relation, and marital and social status did not affect the burden significantly.
Conclusion
HD patients’ neurological status exerts an enormous impact on the caregiver burden regardless of the demographic or social status of the caregiver. This study emphasizes the need to establish an optimal support system for families dealing with HD in Korea. A future longitudinal analysis could help us understand how disease progression aggravates the caregiver burden throughout the entire disease course.

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Attitude toward physical activity among Asian American family caregivers of persons living with dementia
JiWon Choi, Van Park, Andrew Jung, Janice Tsoh
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Non-Pharmacological Interventions for Caregivers of People with Motor Neurone Disease: A Scoping Review of Psychosocial Outcomes
Chidera Okoh, Leighanne Mayall, Selina M. Makin, Cliff Chen, Nicolò Zarotti
Brain Sciences.2025; 15(2): 112. CrossRef
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
Validation of the Korean Version of the Huntington’s Disease Quality of Life Battery for Carers
Hee Jin Chang, Eungseok Oh, Won Tae Yoon, Chan Young Lee, Kyum-Yil Kwon, Yun Su Hwang, Chaewon Shin, Jee-Young Lee
Journal of Movement Disorders.2025; 18(2): 160. CrossRef
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
Journal of Movement Disorders.2024; 17(2): 138. CrossRef

Brief communication

Sex and Gender Influence Urinary Symptoms and Management in Multiple System Atrophy: Elke Schipani Bailey, Sara J. Hooshmand, Negin Badihian, Paola Sandroni, Eduardo E. Benarroch, James H. Bower, Phillip A. Low, Wolfgang Singer, Elizabeth A. Coon; J Mov Disord. 2023;16(2):196-201. Published online May 24, 2023; DOI: https://doi.org/10.14802/jmd.23016

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Objective
Multiple system atrophy (MSA) is characterized by urinary dysfunction, yet the influence of sex and gender on urinary symptoms and treatment is unclear. We sought to characterize sex and gender differences in the symptomatology, evaluation, and management of urinary dysfunction in patients with MSA.
Methods
Patients with MSA evaluated at our institution were reviewed and stratified by sex.
Results
While the prevalence of urinary symptoms was similar in male and female patients, incontinence was more common in females. Despite this, males and females underwent postvoid residual (PVR) measurement at similar rates. While catheterization rates were similar when PVR was measured, males were more than twice as likely to be catheterized than females in the absence of PVR measurement.
Conclusion
Urinary symptoms are common in MSA, but their presentation differs between males and females. The difference in catheterization rates may be driven by a gender disparity in referrals for PVR, which can guide treatment.

Citations

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Multiple system atrophy related neurogenic bladder: mechanism and treatment
Gengqing Ren, Yao Wang, Hao Tian, Kaige Zhang, Han Zhang, Xiaoxu Liu, Zhigang Chen
Neurological Sciences.2025;[Epub] CrossRef
Autonomic dysfunction in multiple system atrophy: from pathophysiology to clinical manifestations
Yuqi Luo, Nan Yang, Wanlin Yang, Baoling Chen, Shuzhen Zhu, YihRu Wu, Qing Wang
Annals of Medicine.2025;[Epub] CrossRef
In vivo cerebral metabolic and dopaminergic characteristics in multiple system atrophy with orthostatic hypotension
Chenxi Xue, Xiaofeng Dou, Congcong Yu, Yan Zhong, Jing Wang, Xiang Zhang, Le Xue, Daoyan Hu, Shuang Wu, Hong Zhang, Mei Tian
European Journal of Nuclear Medicine and Molecular Imaging.2024; 51(2): 468. CrossRef
Sex-related differences in the clinical presentation of multiple system atrophy
Fabian Leys, Sabine Eschlböck, Nicole Campese, Philipp Mahlknecht, Marina Peball, Georg Goebel, Victoria Sidoroff, Florian Krismer, Roberta Granata, Stefan Kiechl, Werner Poewe, Klaus Seppi, Gregor K. Wenning, Alessandra Fanciulli
Clinical Autonomic Research.2024; 34(2): 253. CrossRef
Revisiting sex-gender disparities in MSA: An unfinished narrative
Alexandra Pérez-Soriano, Celia Painous, Barbara Segura, Maria José Martí
Parkinsonism & Related Disorders.2024; 129: 107159. CrossRef

Original Articles

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

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

Citations

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Balance and gait disorders in de novo Parkinson’s disease: support for early rehabilitation
Beata Lindholm, Peter Hagell, Per Odin, Oskar Hansson, Arkadiusz Siennicki-Lantz, Sölve Elmståhl, Lars B. Dahlin, Erika Franzén
Journal of Neurology.2025;[Epub] CrossRef
Impact of motor features on non‐motor symptoms in patients with de novo Parkinson's disease: Cognition, depression, anxiety, fatigue, and dysautonomia
Kyum‐Yil Kwon, Byung‐Euk Joo, Jihwan You, Rae On Kim
Geriatrics & Gerontology International.2025; 25(3): 392. CrossRef
Advances in autonomic dysfunction research in Parkinson’s disease
Hongjia Xu, Xiaolei Zheng, Xinyue Xing, Zhichao Bi, Dewei Wang, Cheng Zhang, Lifei Wei, Yulin Jin, Shunliang Xu
Frontiers in Aging Neuroscience.2025;[Epub] CrossRef
Association between autonomic dysfunction with motor and non-motor symptoms in patients with Parkinson's disease
Yi Qin, De-Tao Meng, Zhao-Hui Jin, Wen-Jun Du, Bo-Yan Fang
Journal of Neural Transmission.2024; 131(4): 323. CrossRef
Determinants of Dual-task Gait Speed in Older Adults with and without Parkinson’s Disease
André Ivaniski-Mello, Vivian Torres Müller, Lucas de Liz Alves, Marcela Zimmermann Casal, Aline Nogueira Haas, Luca Correale, Ana Carolina Kanitz, Valéria Feijó Martins, Andréa Kruger Gonçalves, Flávia Gomes Martinez, Leonardo Alexandre Peyré-Tartaruga
International Journal of Sports Medicine.2023; 44(10): 744. CrossRef

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

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Abstract PDF Supplementary Material

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

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A comprehensive scoping review of methodological approaches and clinical applications of tear fluid biomarkers
Marlies Gijs, Nienke van de Sande, Clémence Bonnet, Jente Schmeetz, Rosa Fernandes, Sònia Travé-Huarte, Marcela Huertas-Bello, Jeremy Chung Bo Chiang, Nikolay Boychev, Shruti Sharma, Françoise Brignole-Baudouin, Karima Kessal, Paul Lingor, Maurice M.T.H.
Progress in Retinal and Eye Research.2025; 106: 101338. CrossRef
Global practices of tear fluid collection, storage, and molecular analysis – A questionnaire by the Tear Research Network
Nikolay Boychev, Swaminathan Sethu, Romy Op de Laak, Marlies Gijs
Contact Lens and Anterior Eye.2025; : 102388. CrossRef
Unveiling brain disorders using liquid biopsy and Raman spectroscopy
Jeewan C. Ranasinghe, Ziyang Wang, Shengxi Huang
Nanoscale.2024; 16(25): 11879. CrossRef
Ocular tear fluid biomarkers collected by contact lenses
Nikolay Boychev, Vincent Yeung, Menglu Yang, Levi N. Kanu, Amy E. Ross, Liangju Kuang, Lin Chen, Joseph B. Ciolino
Biochemical and Biophysical Research Communications.2024; 734: 150744. CrossRef

Case Report

Loss-of-Function Variant in the SMPD1 Gene in Progressive Supranuclear Palsy-Richardson Syndrome Patients of Chinese Ancestry: Shen-Yang Lim, Ai Huey Tan, Jia Nee Foo, Yi Jayne Tan, Elaine GY Chew, Azlina Ahmad Annuar, Alfand Marl Dy Closas, Azalea Pajo, Jia Lun Lim, Yi Wen Tay, Anis Nadhirah, Jia Wei Hor, Tzi Shin Toh, Lei Cheng Lit, Jannah Zulkefli, Su Juen Ngim, Weng Khong Lim, Huw R. Morris, Eng-King Tan, Adeline SL Ng; J Mov Disord. 2024;17(2):213-217. Published online January 31, 2024; DOI: https://doi.org/10.14802/jmd.24009

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

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