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
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Young Cha, Tae-Yoon Park, Pierre Leblanc, Kwang-Soo Kim
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J Mov Disord. 2023;16(1):22-41. Published online January 12, 2023
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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.
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Citations
Citations to this article as recorded by
- 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
- Subjective Cognitive Complaints in Cognitively Normal Patients With Parkinson’s Disease: A Systematic Review
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Jin Yong Hong, Phil Hyu Lee
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J Mov Disord. 2023;16(1):1-12. Published online November 10, 2022
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DOI: https://doi.org/10.14802/jmd.22059
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- Subjective cognitive complaints (SCCs) refer to self-perceived cognitive decline and are related to objective cognitive decline. SCCs in cognitively normal individuals are considered a preclinical sign of subsequent cognitive impairment due to Alzheimer’s disease, and SCCs in cognitively normal patients with Parkinson’s disease (PD) are also gaining attention. The aim of this review was to provide an overview of the current research on SCCs in cognitively normal patients with PD. A systematic search found a lack of consistency in the methodologies used to define and measure SCCs. Although the association between SCCs and objective cognitive performance in cognitively normal patients with PD is controversial, SCCs appear to be predictive of subsequent cognitive decline. These findings support the clinical value of SCCs in cognitively normal status in PD; however, further convincing evidence from biomarker studies is needed to provide a pathophysiological basis for these findings. Additionally, a consensus on the definition and assessment of SCCs is needed for further investigations.
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Citations
Citations to this article as recorded by
- Daily Emotional Experiences in Persons with Parkinson Disease: Relations to Subjective Cognitive Complaints and Quality of Life
Karen R. Hebert, Mackenzie Feldhacker
Physical & Occupational Therapy In Geriatrics.2024; 42(3): 228. CrossRef - Subjective Cognitive Complaints in Parkinson's Disease: A Systematic Review and Meta‐Analysis
Mattia Siciliano, Alessandro Tessitore, Francesca Morgante, Jennifer G. Goldman, Lucia Ricciardi
Movement Disorders.2024; 39(1): 17. CrossRef - Mild cognitive impairment in Parkinson's disease: current view
Kurt A. Jellinger
Frontiers in Cognition.2024;[Epub] CrossRef - Neurocognitive Impairment and Social Cognition in Parkinson’s Disease Patients
Triantafyllos Doskas, Konstantinos Vadikolias, Konstantinos Ntoskas, George D. Vavougios, Dimitrios Tsiptsios, Polyxeni Stamati, Ioannis Liampas, Vasileios Siokas, Lambros Messinis, Grigorios Nasios, Efthimios Dardiotis
Neurology International.2024; 16(2): 432. CrossRef - Cognitive disorders in Parkinson's disease
Victor Kholin, Iryna Karaban, Sergiy Kryzhanovskiy, Nina Karasevich, Natalia Melnik, Maryna Khodakovska, Hanna Shershanova, Natalia Movchun
Ageing & Longevity.2024; (2 2024): 51. CrossRef - Unveiling the role of subjective cognitive complaints in predicting cognitive impairment in Parkinson´s Disease– A longitudinal study with 4 year of follow up
Marta Magriço, Bruna Meira, Marco Fernandes, Manuel Salavisa, Marlene Saraiva, Cláudia Borbinha, João Pedro Marto, Raquel Barbosa, Paulo Bugalho
Neurological Sciences.2024; 45(11): 5271. CrossRef - Self‐ and study partner–reported cognitive decline in older adults without dementia: The role of α‐synuclein and amyloid biomarkers in the Alzheimer's Disease Neuroimaging Initiative
Kelsey R. Thomas, Katherine J. Bangen, Lindsay J. Rotblatt, Alexandra J. Weigand, Lauren Edwards, Duygu Tosun, Douglas Galasko
Alzheimer's & Dementia.2024; 20(11): 7777. CrossRef - Mitochondrial Dysfunction in Parkinson’s Disease: A Contribution to Cognitive Impairment?
Antonella Scorziello, Rossana Sirabella, Maria Josè Sisalli, Michele Tufano, Lucia Giaccio, Elena D’Apolito, Lorenzo Castellano, Lucio Annunziato
International Journal of Molecular Sciences.2024; 25(21): 11490. CrossRef - Total burden of cerebral small vessel disease predict subjective cognitive decline in patients with Parkinson’s disease
Wenchao Qiu, Weili Hu, Yingchao Ge, Peiting Liu, Minghui Zhao, Haifeng Lu, Jian Tao, Shouru Xue
Frontiers in Aging Neuroscience.2024;[Epub] CrossRef - Cognitive impairment in Parkinson’s disease and other parkinsonian syndromes
Alexandros Giannakis, Chrissa Sioka, Eugenia Kloufetou, Spiridon Konitsiotis
Journal of Neural Transmission.2024;[Epub] CrossRef - Association of Neuropsychiatric Symptom Profiles With Cognitive Decline in Patients With Parkinson Disease and Mild Cognitive Impairment
Young-gun Lee, Mincheol Park, Seong Ho Jeong, Kyoungwon Baik, Sungwoo Kang, So Hoon Yoon, Han Kyu Na, Young H. Sohn, Phil Hyu Lee
Neurology.2023;[Epub] CrossRef - Subjective cognitive complaints in patients with progressive supranuclear palsy
Jun Seok Lee, Jong Hyeon Ahn, Jong Mok Ha, Jinyoung Youn, Jin Whan Cho
Frontiers in Neurology.2023;[Epub] CrossRef - Pathobiology of Cognitive Impairment in Parkinson Disease: Challenges and Outlooks
Kurt A. Jellinger
International Journal of Molecular Sciences.2023; 25(1): 498. CrossRef
- Gastrointestinal Dysfunction in Parkinson’s Disease: Neuro-Gastroenterology Perspectives on a Multifaceted Problem
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Ai Huey Tan, Kee Huat Chuah, Yuan Ye Beh, Jie Ping Schee, Sanjiv Mahadeva, Shen-Yang Lim
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J Mov Disord. 2023;16(2):138-151. Published online May 24, 2023
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DOI: https://doi.org/10.14802/jmd.22220
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- 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
Viewpoint
- Potential Benefits and Perils of Incorporating ChatGPT to the Movement Disorders Clinic
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Andres Deik
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J Mov Disord. 2023;16(2):158-162. Published online May 24, 2023
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DOI: https://doi.org/10.14802/jmd.23072
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3,090
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- Patient-Friendly Discharge Summaries in Korea Based on ChatGPT: Software Development and Validation
Hanjae Kim, Hee Min Jin, Yoon Bin Jung, Seng Chan You
Journal of Korean Medical Science.2024;[Epub] CrossRef - A Survey of Clinicians' Views of the Utility of Large Language Models
Matthew Spotnitz, Betina Idnay, Emily R. Gordon, Rebecca Shyu, Gongbo Zhang, Cong Liu, James J. Cimino, Chunhua Weng
Applied Clinical Informatics.2024; 15(02): 306. CrossRef - Performance of ChatGPT 3.5 and 4 as a tool for patient support before and after DBS surgery for Parkinson’s disease
Ana Lúcia Oliveira, Miguel Coelho, Leonor Correia Guedes, Maria Begoña Cattoni, Herculano Carvalho, Pedro Duarte-Batista
Neurological Sciences.2024; 45(12): 5757. CrossRef - Artificial Intelligence in Medical Education and Mentoring in Rehabilitation Medicine
Julie K. Silver, Mustafa Reha Dodurgali, Nara Gavini
American Journal of Physical Medicine & Rehabilitation.2024; 103(11): 1039. CrossRef - ChatGPT utilization within the building blocks of the healthcare services: A mixed-methods study
Payam Shojaei, Mohsen Khosravi, Yalda Jafari, Amir Hossein Mahmoudi, Hadis Hassanipourmahani
DIGITAL HEALTH.2024;[Epub] CrossRef - Can ChatGPT diagnose my collapsing dog?
Samira Abani, Steven De Decker, Andrea Tipold, Jasmin Nicole Nessler, Holger Andreas Volk
Frontiers in Veterinary Science.2023;[Epub] CrossRef - Bias and Inaccuracy in AI Chatbot Ophthalmologist Recommendations
Michael C Oca, Leo Meller, Katherine Wilson, Alomi O Parikh, Allison McCoy, Jessica Chang, Rasika Sudharshan, Shreya Gupta, Sandy Zhang-Nunes
Cureus.2023;[Epub] CrossRef - (How) ChatGPT - Artificial Intelligence Thinks It Can Help/Harm Physiatry
Jakub Jačisko, Viktor Veselý, Ke-Vin Chang, Levent Özçakar
American Journal of Physical Medicine & Rehabilitation.2023;[Epub] CrossRef
Original Article
- The Effect of Blood Lipids, Type 2 Diabetes, and Body Mass Index on Parkinson’s Disease: A Korean Mendelian Randomization Study
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Kye Won Park, Yun Su Hwang, Seung Hyun Lee, Sungyang Jo, Sun Ju Chung
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J Mov Disord. 2023;16(1):79-85. Published online January 12, 2023
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DOI: https://doi.org/10.14802/jmd.22175
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PDFSupplementary Material
- Objective
Associations between various metabolic conditions and Parkinson’s disease (PD) have been previously identified in epidemiological studies. We aimed to investigate the causal effect of lipid levels, type 2 diabetes mellitus (T2DM), and body mass index (BMI) on PD in a Korean population via Mendelian randomization (MR).
Methods
Two-sample MR analyses were performed with inverse-variance weighted (IVW), weighted median, and MR-Egger regression approaches. We identified genetic variants associated with lipid concentrations, T2DM, and BMI in publicly available summary statistics, which were either collected from genome-wide association studies (GWASs) or from meta-analyses of GWAS that targeted only Korean individuals or East Asian individuals, including Korean individuals. The outcome dataset was a GWAS on PD performed in a Korean population.
Results
From previous GWASs and meta-analyses, we selected single nucleotide polymorphisms as the instrumental variables. Variants associated with serum levels of low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, and triglycerides, as well as with T2DM and BMI, were selected (n = 11, 19, 17, 89, and 9, respectively). There were no statistically significant causal associations observed between the five exposures and PD using either the IVW, weighted median, or MR-Egger methods (p-values of the IVW method: 0.332, 0.610, 0.634, 0.275, and 0.860, respectively).
Conclusion
This study does not support a clinically relevant causal effect of lipid levels, T2DM, and BMI on PD risk in a Korean population.
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Citations
Citations to this article as recorded by
- Causal effect of systemic lupus erythematosus on psychiatric disorders: A two-sample Mendelian randomization study
Hua Xue, Shuangjuan Liu, Li Zeng, Wenhui Fan
Journal of Affective Disorders.2024; 347: 422. CrossRef - Causal relationship between diabetes mellitus, glycemic traits and Parkinson’s disease: a multivariable mendelian randomization analysis
Qitong Wang, Benchi Cai, Lifan Zhong, Jitrawadee Intirach, Tao Chen
Diabetology & Metabolic Syndrome.2024;[Epub] CrossRef - Association of Body Mass Index and Parkinson Disease
Cloé Domenighetti, Pierre-Emmanuel Sugier, Ashwin Ashok Kumar Sreelatha, Claudia Schulte, Sandeep Grover, Berta Portugal, Pei-Chen Lee, Patrick May, Dheeraj Bobbili, Milena Radivojkov Blagojevic, Peter Lichtner, Andrew B. Singleton, Dena Hernandez, Connor
Neurology.2024;[Epub] CrossRef - Causal association between common rheumatic diseases and arrhythmia: a Mendelian randomization study
Yuchen Zhang, Ling Tang, Ke Zhang, Xinai Meng, Tian Liu, Yanjia Chen, Xingfu Huang
Frontiers in Cardiovascular Medicine.2024;[Epub] CrossRef - Unraveling the link: exploring the causal relationship between diabetes, multiple sclerosis, migraine, and Alzheimer’s disease through Mendelian randomization
Hua Xue, Li Zeng, Shuangjuan Liu
Frontiers in Neuroscience.2023;[Epub] CrossRef - 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
- GBA1 Variants and Parkinson’s Disease: Paving the Way for Targeted Therapy
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Young Eun Huh, Tatiana Usnich, Clemens R. Scherzer, Christine Klein, Sun Ju Chung
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J Mov Disord. 2023;16(3):261-278. Published online June 12, 2023
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DOI: https://doi.org/10.14802/jmd.23023
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- Glucosylceramidase beta 1 (GBA1) variants have attracted enormous attention as the most promising and important genetic candidates for precision medicine in Parkinson’s disease (PD). A substantial correlation between GBA1 genotypes and PD phenotypes could inform the prediction of disease progression and promote the development of a preventive intervention for individuals at a higher risk of a worse disease prognosis. Moreover, the GBA1-regulated pathway provides new perspectives on the pathogenesis of PD, such as dysregulated sphingolipid metabolism, impaired protein quality control, and disrupted endoplasmic reticulum-Golgi trafficking. These perspectives have led to the development of novel disease-modifying therapies for PD targeting the GBA1-regulated pathway by repositioning treatment strategies for Gaucher’s disease. This review summarizes the current hypotheses on a mechanistic link between GBA1 variants and PD and possible therapeutic options for modulating GBA1-regulated pathways in PD patients.
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- 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
- Multiple System Atrophy: Advances in Diagnosis and Therapy
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Hirohisa Watanabe, Sayuri Shima, Yasuaki Mizutani, Akihiro Ueda, Mizuki Ito
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J Mov Disord. 2023;16(1):13-21. Published online December 20, 2022
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DOI: https://doi.org/10.14802/jmd.22082
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- This review summarizes improvements in understanding the pathophysiology and early clinical symptoms of multiple system atrophy (MSA) and advancements in diagnostic methods and disease-modifying therapies for the condition. In 2022, the Movement Disorder Society proposed new diagnostic criteria to develop disease-modifying therapies and promote clinical trials of MSA since the second consensus was proposed in 2008. Regarding pathogenesis, cutting-edge findings have accumulated on the interactions of α-synuclein, neuroinflammation, and oligodendroglia with neurons. In neuroimaging, introducing artificial intelligence, machine learning, and deep learning has notably improved diagnostic accuracy and individual analyses. Advancements in treatment have also been achieved, including immunotherapy therapy against α-synuclein and serotonin-targeted and mesenchymal stem cell therapies, which are thought to affect several aspects of the disease, including neuroinflammation. The accelerated progress in clarifying the pathogenesis of MSA over the past few years and the development of diagnostic techniques for detecting early-stage MSA are expected to facilitate the development of disease-modifying therapies for one of the most intractable neurodegenerative diseases.
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- A Blinded Evaluation of Brain Morphometry for Differential Diagnosis of Atypical Parkinsonism
Kazuya Kawabata, Florian Krismer, Beatrice Heim, Anna Hussl, Christoph Mueller, Christoph Scherfler, Elke R. Gizewski, Klaus Seppi, Werner Poewe
Movement Disorders Clinical Practice.2024; 11(4): 381. CrossRef - The potential of phosphorylated α‐synuclein as a biomarker for the diagnosis and monitoring of multiple system atrophy
Toufik Abdul‐Rahman, Ranferi Eduardo Herrera‐Calderón, Arjun Ahluwalia, Andrew Awuah Wireko, Tomas Ferreira, Joecelyn Kirani Tan, Maximillian Wolfson, Shankhaneel Ghosh, Viktoriia Horbas, Vandana Garg, Asma Perveen, Marios Papadakis, Ghulam Md Ashraf, Ath
CNS Neuroscience & Therapeutics.2024;[Epub] CrossRef - Delivering the diagnosis of multiple system atrophy: a multicenter survey on Japanese neurologists’ perspectives
Miki Yoshitake, Atsuhiko Sugiyama, Takayoshi Shimohata, Nobuyuki Araki, Masahide Suzuki, Kazumoto Shibuya, Kengo Nagashima, Nobutaka Hattori, Satoshi Kuwabara
BMC Neurology.2024;[Epub] CrossRef - Clinical comparison of the 2008 and 2022 diagnostic criteria for early multiple system atrophy-cerebellar type
Seoyeon Kim, Kyung Ah Woo, Jung Hwan Shin, Han-Joon Kim, Beomseok Jeon
Clinical Autonomic Research.2024; 34(6): 609. CrossRef - Ocular Vestibular-Evoked Myogenic Potential Assists in the Differentiation of Multiple System Atrophy From Parkinson’s Disease
Keun-Tae Kim, Kyoungwon Baik, Sun-Uk Lee, Euyhyun Park, Chan-Nyoung Lee, Tonghoon Woo, Yukang Kim, Seoui Kwag, Hyunsoh Park, Ji-Soo Kim
Journal of Movement Disorders.2024; 17(4): 398. CrossRef
Viewpoint
- From Evidence to the Dish: A Viewpoint of Implementing a Thai-Style Mediterranean Diet for Parkinson’s Disease
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Onanong Phokaewvarangkul, Nitinan Kantachadvanich, Vijittra Buranasrikul, Appasone Phoumindr, Saisamorn Phumphid, Priya Jagota, Roongroj Bhidayasiri
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J Mov Disord. 2023;16(3):279-284. Published online June 19, 2023
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DOI: https://doi.org/10.14802/jmd.23021
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- Old problems, new solutions: harnessing technology and innovation in Parkinson’s disease—evidence and experiences from Thailand
Roongroj Bhidayasiri
Journal of Neural Transmission.2024; 131(6): 721. CrossRef - The rise of Parkinson’s disease is a global challenge, but efforts to tackle this must begin at a national level: a protocol for national digital screening and “eat, move, sleep” lifestyle interventions to prevent or slow the rise of non-communicable dise
Roongroj Bhidayasiri, Jirada Sringean, Saisamorn Phumphid, Chanawat Anan, Chusak Thanawattano, Suwijak Deoisres, Pattamon Panyakaew, Onanong Phokaewvarangkul, Suppata Maytharakcheep, Vijittra Buranasrikul, Tittaya Prasertpan, Rotjana Khontong, Priya Jagot
Frontiers in Neurology.2024;[Epub] CrossRef - Personalized nutrition: the end of the one-diet-fits-all era
Sonia Roman, Liliana Campos-Medina, Leonardo Leal-Mercado
Frontiers in Nutrition.2024;[Epub] CrossRef - The centenarian blueprint: lessons in defying Parkinson’s disease
Roongroj Bhidayasiri, Ikuko Aiba, Masahiro Nomoto
Journal of Neural Transmission.2024;[Epub] CrossRef
Review Article
- A Brief History of NBIA Gene Discovery
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Susan J. Hayflick
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J Mov Disord. 2023;16(2):133-137. Published online April 26, 2023
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DOI: https://doi.org/10.14802/jmd.23014
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- 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 - 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
Original Article
- The Clinical Characterization of Blocking Tics in Patients With Tourette Syndrome
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José Fidel Baizabal-Carvallo, Joseph Jankovic
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J Mov Disord. 2023;16(2):163-167. Published online March 7, 2023
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DOI: https://doi.org/10.14802/jmd.22122
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Abstract
PDFSupplementary Material
- Objective
Tourette syndrome (TS) is a neurodevelopmental disorder characterized by the presence of motor and phonic tics. Blocking phenomena, characterized by arrests in motor activity causing interruptions in movements or speech, have also been described in patients with TS. In this study, we aimed to characterize the frequency and features of blocking tics in patients with TS.
Methods
We studied a cohort of 201 patients with TS evaluated at our movement disorders clinic.
Results
We identified 12 (6%) patients with blocking phenomena. Phonic tic intrusion causing speech arrest was the most common (n = 8, 4%), followed by sustained isometric muscle contractions arresting body movements (n = 4, 2%). The following variables were statistically related to blocking phenomena: shoulder tics, leg tics, copropraxia, dystonic tics, simple phonic tics, and number of phonic tics per patient (all p < 0.050). In the multivariate regression, the presence of dystonic tics (p = 0.014) and a higher number of phonic tics (p = 0.022) were associated with blocking phenomena.
Conclusion
Blocking phenomena are present in approximately 6% of patients with TS, and the presence of dystonic tics and a higher frequency and number of phonic tics increase the risk for these phenomena.
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- Tics emergencies and malignant tourette syndrome: Assessment and management
José Fidel Baizabal-Carvallo, Andrea E. Cavanna, Joseph Jankovic
Neuroscience & Biobehavioral Reviews.2024; 159: 105609. CrossRef - Tourette syndrome research highlights from 2023
Andreas Hartmann, Per Andrén, Cyril Atkinson-Clement, Virginie Czernecki, Cécile Delorme, Nanette Mol Debes, Simon Morand-Beaulieu, Kirsten Müller-Vahl, Peristera Paschou, Natalia Szejko, Apostolia Topaloudi, Kevin J. Black
F1000Research.2024; 13: 677. CrossRef - Tourette syndrome research highlights from 2023
Andreas Hartmann, Per Andrén, Cyril Atkinson-Clement, Virginie Czernecki, Cécile Delorme, Nanette Mol Debes, Simon Morand-Beaulieu, Kirsten Müller-Vahl, Peristera Paschou, Natalia Szejko, Apostolia Topaloudi, Kevin J. Black
F1000Research.2024; 13: 677. CrossRef - Oromandibular tics associated with Tourette syndrome
José Fidel Baizabal-Carvallo, Marlene Alonso-Juarez, Joseph Jankovic
Journal of Neurology.2023; 270(5): 2591. CrossRef
Review Article
- α-Synuclein: A Promising Biomarker for Parkinson’s Disease and Related Disorders
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Taku Hatano, Ayami Okuzumi, Gen Matsumoto, Taiji Tsunemi, Nobutaka Hattori
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J Mov Disord. 2024;17(2):127-137. Published online April 9, 2024
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DOI: https://doi.org/10.14802/jmd.24075
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4,148
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Abstract
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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 - 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
Case Report
- Loss-of-Function Variant in the SMPD1 Gene in Progressive Supranuclear Palsy-Richardson Syndrome Patients of Chinese Ancestry
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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
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J Mov Disord. 2024;17(2):213-217. Published online January 31, 2024
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DOI: https://doi.org/10.14802/jmd.24009
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2,999
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Abstract
PDFSupplementary Material
- 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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Citations
Citations to this article as recorded by
- Parkinson’s Disease is Predominantly a Genetic Disease
Shen-Yang Lim, Christine Klein
Journal of Parkinson’s Disease.2024; 14(3): 467. CrossRef - Identification of Genetic Variants in Progressive Supranuclear Palsy in Southeast Asia
Adeline Su Lyn Ng, Ai Huey Tan, Yi Jayne Tan, Jia Lun Lim, Michelle Mulan Lian, Alfand Marl Dy Closas, Azlina Ahmad‐Annuar, Shanthi Viswanathan, Yuen Kang Chia, Jia Nee Foo, Weng Khong Lim, Eng‐King Tan, Shen‐Yang Lim
Movement Disorders.2024; 39(10): 1829. CrossRef - Genetic-based diagnostics of Parkinson’s disease and other Parkinsonian syndromes
Emma N. Somerville, Ziv Gan-Or
Expert Review of Molecular Diagnostics.2024; 24(12): 1111. CrossRef
Review Article
- Ultrastructures of α-Synuclein Filaments in Synucleinopathy Brains and Experimental Models
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Airi Tarutani, Masato Hasegawa
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J Mov Disord. 2024;17(1):15-29. Published online November 22, 2023
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DOI: https://doi.org/10.14802/jmd.23213
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2,935
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Abstract
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- 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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Citations
Citations to this article as recorded by
- Positron emission tomography tracers for synucleinopathies
Jie Xiang, Zhentao Zhang, Shengxi Wu, Keqiang Ye
Molecular Neurodegeneration.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
Case Report
- Rapid-Onset Dystonia and Parkinsonism in a Patient With Gaucher Disease
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Ellen Hertz, Grisel Lopez, Jens Lichtenberg, Dietrich Haubenberger, Nahid Tayebi, Mark Hallett, Ellen Sidransky
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J Mov Disord. 2023;16(3):321-324. Published online June 13, 2023
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DOI: https://doi.org/10.14802/jmd.23074
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3,002
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Abstract
PDFSupplementary Material
- Biallelic mutations in GBA1 cause the lysosomal storage disorder Gaucher disease, and carriers of GBA1 variants have an increased risk of Parkinson’s disease (PD). It is still unknown whether GBA1 variants are also associated with other movement disorders. We present the case of a woman with type 1 Gaucher disease who developed acute dystonia and parkinsonism at 35 years of age during a recombinant enzyme infusion treatment. She developed severe dystonia in all extremities and a bilateral pill-rolling tremor that did not respond to levodopa treatment. Despite the abrupt onset of symptoms, neither Sanger nor whole genome sequencing revealed pathogenic variants in ATP1A3 associated with rapid-onset dystonia-parkinsonism (RDP). Further examination showed hyposmia and presynaptic dopaminergic deficits in [18F]-DOPA PET, which are commonly seen in PD but not in RDP. This case extends the spectrum of movement disorders reported in patients with GBA1 mutations, suggesting an intertwined phenotype.
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Citations
Citations to this article as recorded by
- Phenotypic consequences of GBA1 pathological variant R463C (p.R502C)
Emory Ryan, Samantha Nishimura, Grisel Lopez, Nahid Tayebi, Ellen Sidransky
American Journal of Medical Genetics Part A.2024;[Epub] CrossRef - In vitro study of ATP1A3 p.Ala275Pro mutant causing alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism
Dan-dan Ruan, Jing Zou, Li-sheng Liao, Ming-dong Ji, Ruo-li Wang, Jian-hui Zhang, Li Zhang, Mei-zhu Gao, Qian Chen, Hong-ping Yu, Wen Wei, Yun-fei Li, Hong Li, Fan Lin, Jie-wei Luo, Xin-fu Lin
Frontiers in Neuroscience.2024;[Epub] CrossRef - Emerging Molecular‐Genetic Families in Dystonia: Endosome‐Autophagosome‐Lysosome and Integrated Stress Response Pathways
Nicole Calakos, Michael Zech
Movement Disorders.2024;[Epub] CrossRef
Original Article
- KMT2B-Related Dystonia in Indian Patients With Literature Review and Emphasis on Asian Cohort
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Debjyoti Dhar, Vikram V Holla, Riyanka Kumari, Neeharika Sriram, Jitender Saini, Ravi Yadav, Akhilesh Pandey, Nitish Kamble, Babylakshmi Muthusamy, Pramod Kumar Pal
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J Mov Disord. 2023;16(3):285-294. Published online June 13, 2023
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DOI: https://doi.org/10.14802/jmd.23035
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4,148
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Abstract
PDFSupplementary Material
- Objective
aaMutations in the KMT2B gene have been identified in patients previously diagnosed with idiopathic dystonia. Literature on KMT2B-related dystonia is sparse in the Indian and Asian populations.
Methods
aaWe report seven patients with KMT2B-related dystonia studied prospectively from May 2021 to September 2022. Patients underwent deep clinical phenotyping and genetic testing by whole-exome sequencing (WES). A systematic literature search was performed to identify the spectrum of previously published KMT2B-related disorders in the Asian subcontinent.
Results
aaThe seven identified patients with KMT2B-related dystonia had a median age at onset of four years. The majority experienced onset in the lower limbs (n = 5, 71.4%), with generalization at a median duration of 2 years. All patients except one had complex phenotypes manifesting as facial dysmorphism (n = 4), microcephaly (n = 3), developmental delay (n = 3), and short stature (n = 1). Magnetic resonance imaging (MRI) abnormalities were present in four cases. WES revealed novel mutations in the KMT2B gene in all patients except one. Compared to the largest cohort of patients with KMT2B-related disorders, the Asian cohort, comprising 42 patients, had a lower prevalence of female patients, facial dysmorphism, microcephaly, intellectual disability, and MRI abnormalities. Protein-truncating variants were more prevalent than missense variants. While microcephaly and short stature were more common in patients with missense mutations, facial dysmorphism was more common in patients with truncating variants. Deep brain stimulation, performed in 17 patients, had satisfactory outcomes.
Conclusion
aaThis is the largest series of patients with KMT2B-related disorders from India, further expanding the clinico-genotypic spectrum. The extended Asian cohort emphasizes the unique attributes of this part of the world.
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Citations
Citations to this article as recorded by
- Genetic Landscape of Dystonia in Asian Indians
Arti Saini, Inder Singh, Mukesh Kumar, Divya Madathiparambil Radhakrishnan, Ayush Agarwal, Divyani Garg, Arunmozhimaran Elavarasi, Rahul Singh, Vivek Chouhan, Sandeep, Anu Gupta, Venugopalan Yamuna Vishnu, Mamta Bhushan Singh, Rohit Bhatia, Ajay Garg, Ne
Movement Disorders Clinical Practice.2025;[Epub] CrossRef - Clinical and genetic profile of patients with dystonia: An experience from a tertiary neurology center from India
Debjyoti Dhar, Vikram V. Holla, Riyanka Kumari, Ravi Yadav, Nitish Kamble, Babylakshmi Muthusamy, Pramod Kumar Pal
Parkinsonism & Related Disorders.2024; 120: 105986. CrossRef - The clinical spectrum and pathogenesis associated with KMT2B variants in Chinese pediatric patients
Shuangjin Ding, Gang Xie, Zonglin Han, Yangming Wang, Ming Shi, Feng Zhai, Tinghong Liu, Zihang Xie, Weihua Zhang, Yun Wu, Xinying Yang, Anna Zhou, Fang Fang, Shuhong Ren, Shuli Liang, Huiqing Cao, Hui Xiong, Changhong Ding, Lifang Dai
Parkinsonism & Related Disorders.2024; 129: 107172. CrossRef