Journal of Movement Disorders

Most-read articles are from the articles published in 2021 during the last three month.

Review Articles

Immune-Mediated Cerebellar Ataxias: Clinical Diagnosis and Treatment Based on Immunological and Physiological Mechanisms: Hiroshi Mitoma, Mario Manto, Marios Hadjivassiliou; J Mov Disord. 2021;14(1):10-28. Published online January 12, 2021; DOI: https://doi.org/10.14802/jmd.20040

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Since the first description of immune-mediated cerebellar ataxias (IMCAs) by Charcot in 1868, several milestones have been reached in our understanding of this group of neurological disorders. IMCAs have diverse etiologies, such as gluten ataxia, postinfectious cerebellitis, paraneoplastic cerebellar degeneration, opsoclonus myoclonus syndrome, anti-GAD ataxia, and primary autoimmune cerebellar ataxia. The cerebellum, a vulnerable autoimmune target of the nervous system, has remarkable capacities (collectively known as the cerebellar reserve, closely linked to plasticity) to compensate and restore function following various pathological insults. Therefore, good prognosis is expected when immune-mediated therapeutic interventions are delivered during early stages when the cerebellar reserve can be preserved. However, some types of IMCAs show poor responses to immunotherapies, even if such therapies are introduced at an early stage. Thus, further research is needed to enhance our understanding of the autoimmune mechanisms underlying IMCAs, as such research could potentially lead to the development of more effective immunotherapies. We underscore the need to pursue the identification of robust biomarkers.

Citations

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Autoimmunologische Kleinhirnerkrankungens
Niklas Vogel, Christian Hartmann, Sven Meuth, Nico Melzer
Nervenheilkunde.2023; 42(01/02): 73. CrossRef
Evaluation and management of acute high-grade immunotherapy-related neurotoxicity
Marcelo Sandoval, Adriana H. Wechsler, Zahra Alhajji, Jayne Viets-Upchurch, Patricia Brock, Demis N. Lipe, Aisha Al-breiki, Sai-Ching J. Yeung
Heliyon.2023; 9(3): e13725. CrossRef
Consensus Paper: Latent Autoimmune Cerebellar Ataxia (LACA)
Mario Manto, Marios Hadjivassiliou, José Fidel Baizabal-Carvallo, Christiane S Hampe, Jerome Honnorat, Bastien Joubert, Hiroshi Mitoma, Sergio Muñiz-Castrillo, Aasef G. Shaikh, Alberto Vogrig
The Cerebellum.2023;[Epub] CrossRef
Proinflammatory activation of microglia in the cerebellum hyperexcites Purkinje cells to trigger ataxia
Shu-Tao Xie, Wen-Chu Fan, Xian-Sen Zhao, Xiao-Yang Ma, Ze-Lin Li, Yan-Ran Zhao, Fa Yang, Ying Shi, Hui Rong, Zhi-San Cui, Jun-Yi Chen, Hong-Zhao Li, Chao Yan, Qipeng Zhang, Jian-Jun Wang, Xiao-Yang Zhang, Xiao-Ping Gu, Zheng-Liang Ma, Jing-Ning Zhu
Pharmacological Research.2023; 191: 106773. CrossRef
Immune-related adverse events and immune checkpoint inhibitors: a focus on neurotoxicity and clinical management
Rosanna Ruggiero, Raffaella Di Napoli, Nunzia Balzano, Donatella Ruggiero, Consiglia Riccardi, Antonietta Anatriello, Andrea Cantone, Liberata Sportiello, Francesco Rossi, Annalisa Capuano
Expert Review of Clinical Pharmacology.2023; 16(5): 423. CrossRef
Gluten Ataxia: an Underdiagnosed Condition
Marios Hadjivassiliou, R. A. Grϋnewald
The Cerebellum.2022; 21(4): 620. CrossRef
Clinical Problem Solving: Decreased Level of Consciousness and Unexplained Hydrocephalus
Naomi Niznick, Ronda Lun, Daniel A. Lelli, Tadeu A. Fantaneanu
The Neurohospitalist.2022; 12(2): 312. CrossRef
Pharmacotherapy of cerebellar and vestibular disorders
João Lemos, Mario Manto
Current Opinion in Neurology.2022; 35(1): 118. CrossRef
Advances in the Pathogenesis of Auto-antibody-Induced Cerebellar Synaptopathies
Hiroshi Mitoma, Mario Manto
The Cerebellum.2022; 22(1): 129. CrossRef
A Breakdown of Immune Tolerance in the Cerebellum
Christiane S. Hampe, Hiroshi Mitoma
Brain Sciences.2022; 12(3): 328. CrossRef
Acute Cerebellar Inflammation and Related Ataxia: Mechanisms and Pathophysiology
Md. Sorwer Alam Parvez, Gen Ohtsuki
Brain Sciences.2022; 12(3): 367. CrossRef
A Case Report of Anti-PCA-2-Positive Autoimmune Cerebellitis
霞董
Advances in Clinical Medicine.2022; 12(04): 3272. CrossRef
Cell-Autonomous Processes That Impair Xenograft Survival into the Cerebellum
Lorenzo Magrassi, Giulia Nato, Domenico Delia, Annalisa Buffo
The Cerebellum.2022; 21(5): 821. CrossRef
Diagnosis and Clinical Features in Autoimmune-Mediated Movement Disorders
Pei-Chen Hsieh, Yih-Ru Wu
Journal of Movement Disorders.2022; 15(2): 95. CrossRef
Autoimmune cerebellar ataxia associated with anti-leucine-rich glioma-inactivated protein 1 antibodies: Two pediatric cases
Zhang Weihua, Ren Haitao, Deng Jie, Ren Changhong, Zhou Ji, Zhou Anna, Guan Hongzhi, Ren Xiaotun
Journal of Neuroimmunology.2022; 370: 577918. CrossRef
Anti-dipeptidyl-peptidase-like protein 6 encephalitis with pure cerebellar ataxia: a case report
Jing Lin, Min Zhu, Xiaocheng Mao, Zeqing Jin, Meihong Zhou, Daojun Hong
BMC Neurology.2022;[Epub] CrossRef
Central Positional Nystagmus
Ana Inês Martins, André Jorge, João Lemos
Current Treatment Options in Neurology.2022; 24(10): 453. CrossRef
Paraneoplastic Ataxia: Antibodies at the Forefront Have Become Routine Biomarkers
Lazaros C. Triarhou, Mario Manto
The Cerebellum.2022; 22(4): 534. CrossRef
Rare Etiologies in Immune-Mediated Cerebellar Ataxias: Diagnostic Challenges
Marios Hadjivassiliou, Mario Manto, Hiroshi Mitoma
Brain Sciences.2022; 12(9): 1165. CrossRef
Paraneoplastic syndromes in neuro-ophthalmology
SimonJ Hickman
Annals of Indian Academy of Neurology.2022; 25(8): 101. CrossRef
Immunotherapies for the Effective Treatment of Primary Autoimmune Cerebellar Ataxia: a Case Series
Jiao Li, Bo Deng, Wenli Song, Keru Li, Jingwen Ai, Xiaoni Liu, Haocheng Zhang, Yi Zhang, Ke Lin, Guofu Shao, Chunfeng Liu, Wenhong Zhang, Xiangjun Chen, Yanlin Zhang
The Cerebellum.2022;[Epub] CrossRef
Evaluation and Management of Acute High-Grade Immunotherapy-Related Neurotoxicity
Marcelo Sandoval, Adriana H. Wechsler, Zahra Alhajji, Jayne Viets-Upchurch, Patricia A. Brock, Demis N. Lipe, Aisha Al-Buraiki, Sai-Ching Jim Yeung
SSRN Electronic Journal .2022;[Epub] CrossRef
Stiff-Eye Syndrome—Anti-GAD Ataxia Presenting with Isolated Ophthalmoplegia: A Case Report
Abel Dantas Belém, Thaís de Maria Frota Vasconcelos, Rafael César dos Anjos de Paula, Francisco Bruno Santana da Costa, Pedro Gustavo Barros Rodrigues, Isabelle de Sousa Pereira, Paulo Roberto de Arruda Tavares, Gabriela Studart Galdino, Daniel Aguiar Dia
Brain Sciences.2021; 11(7): 932. CrossRef
Update on Paraneoplastic Cerebellar Degeneration
Philipp Alexander Loehrer, Lara Zieger, Ole J. Simon
Brain Sciences.2021; 11(11): 1414. CrossRef

Adult-Onset Genetic Leukoencephalopathies With Movement Disorders: Mu-Hui Fu, Yung-Yee Chang; J Mov Disord. 2023;16(2):115-132. Published online March 7, 2023; DOI: https://doi.org/10.14802/jmd.22127

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Abstract PDF: Genetic leukoencephalopathies (GLEs) are a group of white matter abnormalities with heterogeneous radiological and phenotypic features. Although these conditions have mostly been described in children, adult-onset cases are increasingly recognized owing to the widespread use of neuroimaging and advances in molecular genetic testing. The disease course is often progressive with a varied spectrum of presentations, trapping neurologists in the dilemma of differential diagnosis. Movement disorders are among the most common symptoms, and their diversity makes diagnosis challenging. In this review, we focus on adult-onset GLEs with movement disorders and offer a step-by-step diagnostic approach by clarifying the phenomenology of movement, advising investigations for acquired causes, describing the clinical and radiological clues to each disease, emphasizing the limitations of advanced molecular testing, and discussing the future application of artificial intelligence. We provide a list summarizing the leukoencephalopathies associated with different categories of movement disorders. In addition to guiding clinicians on how to narrow the list of differential diagnoses with the tools currently available, another aim of this review is to emphasize the inevitable trend toward applying advanced technology in diagnosing these difficult diseases.

Environmental Risk Factors for Progressive Supranuclear Palsy: Hee Kyung Park, Sindana D. Ilango, Irene Litvan; J Mov Disord. 2021;14(2):103-113. Published online May 26, 2021; DOI: https://doi.org/10.14802/jmd.20173

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Abstract PDF

Typically, progressive supranuclear palsy (PSP) is clinically characterized by slow vertical saccades or supranuclear gaze palsy, levodopa-resistant parkinsonism with predominant axial symptoms, and cognitive executive impairment. Over the past decades, various PSP phenotypes, including PSP with predominant parkinsonism, PSP with corticobasal syndrome, PSP with progressive gait freezing, and PSP with predominant frontal dysfunction, have been identified from pathologically confirmed cases. Expanding knowledge led to new diagnostic criteria for PSP that with increased disease awareness led to increased PSP prevalence estimates. The identification of environmental and modifiable risk factors creates an opportunity to intervene and delay the onset of PSP or slow disease progression. To date, despite the increasing number of publications assessing risk factors for PSP, few articles have focused on environmental and lifestyle risk factors for this disorder. In this article, we reviewed the literature investigating the relationship between PSP and several environmental and other modifiable lifestyle risk factors. In our review, we found that exposures to toxins related to diet, metals, well water, and hypertension were associated with increased PSP risk. In contrast, higher education and statins may be protective. Further case-control studies are encouraged to determine the exact role of these factors in the etiopathogenesis of PSP, which in turn would inform strategies to prevent and reduce the burden of PSP.

Citations

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Progressive supranuclear palsy’s economical burden: the use and costs of healthcare resources in a large health provider in Israel
Yael Barer, Raanan Cohen, Meital Grabarnik-John, Xiaolan Ye, Jorge Zamudio, Tanya Gurevich, Gabriel Chodick
Journal of Neurology.2023; 270(8): 3770. CrossRef
The Pesticide Chlordecone Promotes Parkinsonism-like Neurodegeneration with Tau Lesions in Midbrain Cultures and C. elegans Worms
Valeria Parrales-Macias, Patrick P. Michel, Aurore Tourville, Rita Raisman-Vozari, Stéphane Haïk, Stéphane Hunot, Nicolas Bizat, Annie Lannuzel
Cells.2023; 12(9): 1336. CrossRef
The prevalence and incidence of progressive supranuclear palsy and corticobasal syndrome: a systematic review and meta-analysis
Shane Lyons, Dominic Trépel, Tim Lynch, Richard Walsh, Sean O’Dowd
Journal of Neurology.2023; 270(9): 4451. CrossRef
Dementia Prevention in Clinical Practice
Kellyann Niotis, Kiarra Akiyoshi, Caroline Carlton, Richard Isaacson
Seminars in Neurology.2022; 42(05): 525. CrossRef
Progressive Supranuclear Palsy in 2022: recent developments and an eye to the future
Shane Lyons, Sean O'Dowd, Richard Walsh, Tim Lynch
Advances in Clinical Neuroscience & Rehabilitation.2022;[Epub] CrossRef

Original Article

Increased Mortality in Young-Onset Parkinson’s Disease: Eldbjørg Hustad, Tor Åge Myklebust, Sasha Gulati, Jan O. Aasly; J Mov Disord. 2021;14(3):214-220. Published online July 29, 2021; DOI: https://doi.org/10.14802/jmd.21029

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Abstract PDF

Objective
Few studies have followed Parkinson’s disease (PD) patients from the time of diagnosis to the date of death. This study compared mortality in the Trondheim PD cohort to the general population, investigated causes of death and analyzed the associations between mortality and age at disease onset (AAO) and cognitive decline defined as Montreal Cognitive Assessment (MoCA) score below 26.
Methods
The cohort was followed longitudinally from 1997. By the end of January 2020, 587 patients had died. Comparisons to the Norwegian population were performed by calculating standardized mortality ratios (SMRs). Survival curves were estimated using the standard Kaplan-Meier estimator, and multivariable Cox proportional hazard models were estimated to investigate associations.
Results
SMR was 2.28 [95% confidence interval (CI): 2.13–2.44] for the whole cohort. For participants with AAO 20–39 years, the SMR was 5.55 (95% CI: 3.38–8.61). Median survival was 15 years (95% CI: 14.2–15.5) for the whole cohort. Early-onset PD (EOPD) patients (AAO < 50 years) had the longest median survival time. For all groups, there was a significant shortening in median survival time and an almost 3-fold higher age- and sex-adjusted hazard ratio for death when the MoCA score decreased below 26.
Conclusion
PD patients with an AAO before 40 years had a more than fivefold higher mortality rate compared to a similar general population. EOPD patients had the longest median survival; however, their life expectancy was reduced to a greater degree than that of late-onset PD patients. Cognitive impairment was strongly associated with mortality in PD.

Citations

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Tinetti balance performance is associated with mortality in older adults with late-onset Parkinson’s disease: a longitudinal study
Louise Laurent, Pierre Koskas, Janina Estrada, Mélanie Sebbagh, Sophie Lacaille, Agathe Raynaud-Simon, Matthieu Lilamand
BMC Geriatrics.2023;[Epub] CrossRef
Letter in response to Cole-Hunter et al., 2023: What does “Parkinson’s disease mortality” mean?
Isabell Katharina Rumrich, Valtteri Kaasinen, Otto Hänninen, Sirpa Hartikainen, Anna-Maija Tolppanen
Environment International.2023; 173: 107852. CrossRef
Differences in Survival across Monogenic Forms of Parkinson's Disease
Aymeric Lanore, Fanny Casse, Christelle Tesson, Thomas Courtin, Poornima Jayadev Menon, Sara Sambin, Graziella Mangone, Louise‐Laure Mariani, Suzanne Lesage, Alexis Brice, Alexis Elbaz, Jean‐Christophe Corvol
Annals of Neurology.2023; 94(1): 123. CrossRef
Real-World Prescription Patterns For Patients With Young-Onset Parkinson’s Disease in China: A Trend Analysis From 2014 to 2019
Xiao-qin Liu, Xiao-yu Wang, Hui-ming Shen, Wen-yuan Pang, Ming-kang Zhong, Chun-lai Ma
Frontiers in Pharmacology.2022;[Epub] CrossRef
Montreal cognitive assessment (MoCA) is highly correlated with 1-year mortality in hip fracture patients
R. M. Y. Wong, R. W. K. Ng, W. W. Chau, W. H. Liu, S. K. H. Chow, C. Y. Tso, N. Tang, W.-H. Cheung
Osteoporosis International.2022; 33(10): 2185. CrossRef
Obituary for Jan O. Aasly (1950–2022)
Matthew J. Farrer
Movement Disorders.2022; 37(9): 1783. CrossRef
Age Cutoff for Early‐Onset Parkinson's Disease: Recommendations from the International Parkinson and Movement Disorder Society Task Force on Early Onset Parkinson's Disease
Raja Mehanna, Katarzyna Smilowska, Jori Fleisher, Bart Post, Taku Hatano, Maria Elisa Pimentel Piemonte, Kishore Raj Kumar, Victor McConvey, Baorong Zhang, Eng‐King Tan, Rodolfo Savica
Movement Disorders Clinical Practice.2022; 9(7): 869. CrossRef

Review Articles

Current Status and Future Perspectives on Stem Cell-Based Therapies for Parkinson’s Disease: Young Cha, Tae-Yoon Park, Pierre Leblanc, Kwang-Soo Kim; J Mov Disord. 2023;16(1):22-41. Published online January 12, 2023; DOI: https://doi.org/10.14802/jmd.22141

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Abstract PDF

Parkinson’s disease (PD) is the second most common neurodegenerative disorder after Alzheimer’s disease, affecting 1%–2% of the population over the age of 65. As the population ages, it is anticipated that the burden on society will significantly escalate. Although symptom reduction by currently available pharmacological and/or surgical treatments improves the quality of life of many PD patients, there are no treatments that can slow down, halt, or reverse disease progression. Because the loss of a specific cell type, midbrain dopamine neurons in the substantia nigra, is the main cause of motor dysfunction in PD, it is considered a promising target for cell replacement therapy. Indeed, numerous preclinical and clinical studies using fetal cell transplantation have provided proof of concept that cell replacement therapy may be a viable therapeutic approach for PD. However, the use of human fetal cells remains fraught with controversy due to fundamental ethical, practical, and clinical limitations. Groundbreaking work on human pluripotent stem cells (hPSCs), including human embryonic stem cells and human induced pluripotent stem cells, coupled with extensive basic research in the stem cell field offers promising potential for hPSC-based cell replacement to become a realistic treatment regimen for PD once several major issues can be successfully addressed. In this review, we will discuss the prospects and challenges of hPSC-based cell therapy for PD.

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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

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.

Manganese and Movement Disorders: A Review: Dinkar Kulshreshtha, Jacky Ganguly, Mandar Jog; J Mov Disord. 2021;14(2):93-102. Published online April 6, 2021; DOI: https://doi.org/10.14802/jmd.20123

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15 Citations

Abstract PDF

Scientific and technological advances achieved with industrial expansion have led to an ever-increasing demand for heavy metals. This demand has, in turn, led to increased contamination of soil, water and air with these metals. Chronic exposure to metals may be detrimental not only to occupational workers but also to the nonoccupational population exposed to these metals. Manganese (Mn), a commonly used heavy metal, is an essential cofactor for many enzymatic processes that drive biological functions. However, it is also a potential source of neurotoxicity, particularly in the field of movement disorders. The typical manifestation of Mn overexposure is parkinsonism, which may be difficult to differentiate from the more common idiopathic Parkinson’s disease. In addition to environmental exposure to Mn, other potential etiologies causing hypermanganesemia include systemic health conditions, total parenteral nutrition and genetic mutations causing Mn dyshomeostasis. In this review, we critically analyze Mn and discuss its sources of exposure, pathophysiology and clinical manifestations. We have highlighted the global public health impact of Mn and emphasize that movement disorder specialists should record a detailed social and occupational history to ensure that a toxic etiology is not misdiagnosed as a neurodegenerative disease. In the absence of a definite therapeutic option, early diagnosis and timely institution of preventive measures are the keys to managing its toxic effects.

Citations

Citations to this article as recorded by

The Regulation of ZIP8 by Dietary Manganese in Mice
Suetmui Yu, Ningning Zhao
International Journal of Molecular Sciences.2023; 24(6): 5962. CrossRef
Manganese Neurotoxicity as a Stroke Mimic: A Case Report
Mohiudeen Alikunju, Nafeesathu Misiriyyah , Shaikh Sayeed Iqbal, Maria Khan
Cureus.2023;[Epub] CrossRef
Associations of ambient manganese exposure with brain gray matter thickness and white matter hyperintensities
Shinyoung Woo, Young Noh, Sang-Baek Koh, Seung-Koo Lee, Jung il Lee, Ho Hyun Kim, Sun- Young Kim, Jaelim Cho, Changsoo Kim
Hypertension Research.2023; 46(8): 1870. CrossRef
Investigation of Heavy Metal Analysis on Medicinal Plants Used for the Treatment of Skin Cancer by Traditional Practitioners in Pretoria
Oluwaseun Mary Oladeji, Boikanyo Genneyrolter Kopaopa, Liziwe Lizbeth Mugivhisa, Joshua Oluwole Olowoyo
Biological Trace Element Research.2023;[Epub] CrossRef
Manganese overexposure induces Parkinson-like symptoms, altered lipid signature and oxidative stress in C57BL/6 J mouse
Muxue Lu, Ping Deng, Lingling Yang, Xue Wang, Xiang Mei, Chao Zhou, Mengyan Chen, Zhou Zhou, Huifeng Pi, Lichuan Wu, Zhengping Yu
Ecotoxicology and Environmental Safety.2023; 263: 115238. CrossRef
The Role of Oxidative Stress in Manganese Neurotoxicity: A Literature Review Focused on Contributions Made by Professor Michael Aschner
David C. Dorman
Biomolecules.2023; 13(8): 1176. CrossRef
Differentiating Wild and Apiary Honey by Elemental Profiling: a Case Study from Mangroves of Indian Sundarban
Tanushree Gaine, Praveen Tudu, Somdeep Ghosh, Shouvik Mahanty, Madhurima Bakshi, Nabanita Naskar, Souparna Chakrabarty, Subarna Bhattacharya, Swati Gupta Bhattacharya, Kashinath Bhattacharya, Punarbasu Chaudhuri
Biological Trace Element Research.2022; 200(10): 4550. CrossRef
Environmental Impact on the Epigenetic Mechanisms Underlying Parkinson’s Disease Pathogenesis: A Narrative Review
Efthalia Angelopoulou, Yam Nath Paudel, Sokratis G. Papageorgiou, Christina Piperi
Brain Sciences.2022; 12(2): 175. CrossRef
Ayahuasca as a Decoction Applied to Human: Analytical Methods, Pharmacology and Potential Toxic Effects
Ľuboš Nižnanský, Žofia Nižnanská, Roman Kuruc, Andrea Szórádová, Ján Šikuta, Anežka Zummerová
Journal of Clinical Medicine.2022; 11(4): 1147. CrossRef
Can therapeutic plasma exchange be life-saving in life-threatening manganese intoxication?
Emel Uyar, Esra Gurkas, Aysel Unlusoy Aksu, Serhat Emeksiz, Cigdem Seher Kasapkara, Nadide Basak Gulleroglu, Ikbal Ok Bozkaya, Kader Karlı Oguz
Transfusion and Apheresis Science.2022; 61(4): 103417. CrossRef
Manganese‐induced parkinsonism responsive to intranasal insulin: A case report
Mehri Salari, Masoud Etemadifar, Leila Dargahi, Neda Valian, Malihe Rezaee
Clinical Case Reports.2022;[Epub] CrossRef
The potential convergence of NLRP3 inflammasome, potassium, and dopamine mechanisms in Parkinson’s disease
Adrianne F. Pike, Ildikò Szabò, Robert Veerhuis, Luigi Bubacco
npj Parkinson's Disease.2022;[Epub] CrossRef
Effect of Chelation Therapy on a Korean Patient With Brain Manganese Deposition Resulting From a Compound Heterozygous Mutation in the SLC39A14 Gene
Jae-Hyeok Lee, Jin-Hong Shin
Journal of Movement Disorders.2022; 15(2): 171. CrossRef
Manganese chloride (MnCl2) induced novel model of Parkinson’s disease in adult Zebrafish; Involvement of oxidative stress, neuroinflammation and apoptosis pathway
Abhishek.P.R. Nadig, Bader Huwaimel, Ahmed Alobaida, El-Sayed Khafagy, Hadil Faris Alotaibi, Afrasim Moin, Amr Selim Abu Lila, Suman, Sahyadri. M, K.L. Krishna
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Çalışma Yaşamında Manganez Maruz Kalımının Sağlık Etkileri ve Parkinsonizm
Zehra GÖK METİN, Abdulsamet SANDAL, Ali Naci YILDIZ
Karaelmas İş Sağlığı ve Güvenliği Dergisi.2021; 5(2): 147. CrossRef

Original Article

The Clinical Characterization of Blocking Tics in Patients With Tourette Syndrome: José Fidel Baizabal-Carvallo, Joseph Jankovic; J Mov Disord. 2023;16(2):163-167. Published online March 7, 2023; DOI: https://doi.org/10.14802/jmd.22122

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Abstract PDF Supplementary 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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Oromandibular tics associated with Tourette syndrome
José Fidel Baizabal-Carvallo, Marlene Alonso-Juarez, Joseph Jankovic
Journal of Neurology.2023; 270(5): 2591. 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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Abstract PDF: 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.

Original Article

Health-Related Quality of Life for Parkinson’s Disease Patients and Their Caregivers: Michal Lubomski, Ryan L. Davis, Carolyn M. Sue; J Mov Disord. 2021;14(1):42-52. Published online January 12, 2021; DOI: https://doi.org/10.14802/jmd.20079

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20 Citations

Abstract PDF

Objective
Motor and non-motor symptoms (NMS) negatively impact the health-related quality of life (HRQoL) for individuals with Parkinson’s disease (PD), as well as their caregivers. NMS can emerge decades prior to the manifestation of motor symptoms but often go unrecognized and therefore untreated. To guide clinical management, we surveyed differences and identified factors that influence HRQoL in a cohort of PD patients and family caregivers.
Methods
A total of 103 PD patients were compared with 81 caregivers. Outcome measures collected from validated questionnaires included generic and disease-specific HRQoL assessments, depression frequency and severity, constipation severity, upper and lower gastrointestinal symptoms, physical activity and motor symptom severity.
Results
PD patients reported significantly decreased physical and mental HRQoL compared to their caregivers (both p < 0.001). Unemployment, the need for social support services, rehabilitation use, REM sleep behavior disorder, impulse control disorders and features suggestive of increasing disease severity hallmarked by increasing PD duration, higher MDS UPDRS-III (Movement Disorder Society–Unified Parkinson’s Disease Rating Scale–Part III) scores, higher daily levodopa equivalence dose and motor fluctuations were consistent with a lower HRQoL in our PD cohort. Furthermore, decreased physical activity, chronic pain, depression, constipation and upper gastrointestinal dysfunction (particularly indigestion, excess fullness and bloating) suggested vulnerability to reduced HRQoL. Overall, PD patients perceived their health to decline by 12% more than their caregivers did over a 1-year period.
Conclusion
PD patients reported decreased HRQoL, with both motor symptoms and NMS negatively impacting HRQoL. Our findings support the routine clinical screening of HRQoL in PD patients to identify and address modifiable factors.

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Impact of advanced Parkinson’s disease on caregivers: an international real-world study
Pablo Martinez-Martin, Matej Skorvanek, Tove Henriksen, Susanna Lindvall, Josefa Domingos, Ali Alobaidi, Prasanna L. Kandukuri, Vivek S. Chaudhari, Apeksha B. Patel, Juan Carlos Parra, James Pike, Angelo Antonini
Journal of Neurology.2023; 270(4): 2162. CrossRef
Perspectives of people with Parkinson's disease and family carers about disease management in community settings: A cross‐country qualitative study
M. Victoria Navarta‐Sánchez, Ana Palmar‐Santos, Azucena Pedraz‐Marcos, Claire Reidy, Dia Soilemezi, Anita Haahr, Dorthe Sørensen, Helle Rønn Smidt, Line Kildal Bragstad, Ellen Gabrielsen Hjelle, Silje Bjørnsen Haavaag, Mari Carmen Portillo
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Review Articles

Treatable Ataxias: How to Find the Needle in the Haystack?: Albert Stezin, Pramod Kumar Pal; J Mov Disord. 2022;15(3):206-226. Published online September 7, 2022; DOI: https://doi.org/10.14802/jmd.22069

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Abstract PDF

Treatable ataxias are a group of ataxic disorders with specific treatments. These disorders include genetic and metabolic disorders, immune-mediated ataxic disorders, and ataxic disorders associated with infectious and parainfectious etiology, vascular causes, toxins and chemicals, and endocrinopathies. This review provides a comprehensive overview of different treatable ataxias. The major metabolic and genetic treatable ataxic disorders include ataxia with vitamin E deficiency, abetalipoproteinemia, cerebrotendinous xanthomatosis, Niemann-Pick disease type C, autosomal recessive cerebellar ataxia due to coenzyme Q10 deficiency, glucose transporter type 1 deficiency, and episodic ataxia type 2. The treatment of these disorders includes the replacement of deficient cofactors and vitamins, dietary modifications, and other specific treatments. Treatable ataxias with immune-mediated etiologies include gluten ataxia, anti-glutamic acid decarboxylase antibody-associated ataxia, steroid-responsive encephalopathy associated with autoimmune thyroiditis, Miller-Fisher syndrome, multiple sclerosis, and paraneoplastic cerebellar degeneration. Although dietary modification with a gluten-free diet is adequate in gluten ataxia, other autoimmune ataxias are managed by short-course steroids, plasma exchange, or immunomodulation. For autoimmune ataxias secondary to malignancy, treatment of tumor can reduce ataxic symptoms. Chronic alcohol consumption, antiepileptics, anticancer drugs, exposure to insecticides, heavy metals, and recreational drugs are potentially avoidable and treatable causes of ataxia. Infective and parainfectious causes of cerebellar ataxias include acute cerebellitis, postinfectious ataxia, Whipple’s disease, meningoencephalitis, and progressive multifocal leukoencephalopathy. These disorders are treated with steroids and antibiotics. Recognizing treatable disorders is of paramount importance when dealing with ataxias given that early treatment can prevent permanent neurological sequelae.

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Rehabilitation in ataxia
Anupam Gupta, NavinB Prakash, Hafis Rahman
Indian Journal of Physical Medicine & Rehabilitation.2023; 33(1): 21. CrossRef

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.

Nine Hereditary Movement Disorders First Described in Asia: Their History and Evolution: Priya Jagota, Yoshikazu Ugawa, Zakiyah Aldaajani, Norlinah Mohamed Ibrahim, Hiroyuki Ishiura, Yoshiko Nomura, Shoji Tsuji, Cid Diesta, Nobutaka Hattori, Osamu Onodera, Saeed Bohlega, Amir Al-Din, Shen-Yang Lim, Jee-Young Lee, Beomseok Jeon, Pramod Kumar Pal, Huifang Shang, Shinsuke Fujioka, Prashanth Lingappa Kukkle, Onanong Phokaewvarangkul, Chin-Hsien Lin, Cholpon Shambetova, Roongroj Bhidayasiri; J Mov Disord. 2023;16(3):231-247. Published online June 13, 2023; DOI: https://doi.org/10.14802/jmd.23065

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Abstract PDF Supplementary Material: Clinical case studies and reporting are important to the discovery of new disorders and the advancement of medical sciences. Both clinicians and basic scientists play equally important roles leading to treatment discoveries for both cures and symptoms. In the field of movement disorders, exceptional observation of patients from clinicians is imperative, not just for phenomenology but also for the variable occurrences of these disorders, along with other signs and symptoms, throughout the day and the disease course. The Movement Disorders in Asia Task Force (TF) was formed to help enhance and promote collaboration and research on movement disorders within the region. As a start, the TF has reviewed the original studies of the movement disorders that were preliminarily described in the region. These include nine disorders that were first described in Asia: Segawa disease, PARK-Parkin, X-linked dystonia-parkinsonism, dentatorubral-pallidoluysian atrophy, Woodhouse-Sakati syndrome, benign adult familial myoclonic epilepsy, Kufor-Rakeb disease, tremulous dystonia associated with mutation of the calmodulin-binding transcription activator 2 gene, and paroxysmal kinesigenic dyskinesia. We hope that the information provided will honor the original researchers and help us learn and understand how earlier neurologists and basic scientists together discovered new disorders and made advances in the field, which impact us all to this day.

Original Article

Umami and Other Taste Perceptions in Patients With Parkinson’s Disease: Priya Jagota, Nattida Chotechuang, Chanawat Anan, Teeraparp Kitjawijit, Chanchai Boonla, Roongroj Bhidayasiri; J Mov Disord. 2022;15(2):115-123. Published online March 22, 2022; DOI: https://doi.org/10.14802/jmd.21058

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Abstract PDF

Objective
Studies of taste perceptions in Parkinson’s disease (PD) patients have been controversial, and none of these studies have assessed umami taste. This study aimed to assess umami, along with the other 4 taste functions in PD patients.
Methods
Participants were tested for gustation using the modified filter paper disc method and olfaction using the modified Sniffin’ Stick-16 (mSS-16) test (only 14 culturally suitable items were used). A questionnaire evaluated patients’ subjective olfactory and gustatory dysfunction, taste preference, appetite, and food habits.
Results
A total of 105 PD patients and 101 age- and sex-matched controls were included. The body mass index (BMI) of PD patients was lower than that of controls (PD = 22.62, controls = 23.86, p = 0.028). The mSS-16 score was 10.7 for controls and 6.4 for PD patients (p < 0.001) (normal ≥ 9). Taste recognition thresholds (RTs) for sweet, salty, sour, bitter and umami tastes were significantly higher in PD, indicating poorer gustation. All taste RTs correlated with each other, except for umami. Most patients were unaware of their dysfunction. Patients preferred sweet, salty and umami tastes more than the controls. Dysgeusia of different tastes in patients was differentially associated with poorer discrimination of tastes, an inability to identify the dish and adding extra seasoning to food. BMI and mSS-16 scores showed no correlation in either patients or controls.
Conclusion
PD patients have dysgeusia for all five tastes, including umami, which affects their appetite and diet. Patients preferred sweet, salty and umami tastes. This information can help adjust patients’ diets to improve their nutritional status.

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Citations to this article as recorded by

Gustatory dysfunction is related to Parkinson's disease: A systematic review and meta‐analysis
Il‐Youp Kwak, Kyung Soo Kim, Hyun Jin Min
International Forum of Allergy & Rhinology.2023;[Epub] CrossRef

Review Article

The Supplementary Motor Complex in Parkinson’s Disease: Shervin Rahimpour, Shashank Rajkumar, Mark Hallett; J Mov Disord. 2022;15(1):21-32. Published online November 25, 2021; DOI: https://doi.org/10.14802/jmd.21075

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Abstract PDF

Parkinson’s disease (PD) is a neurodegenerative disorder characterized by both motor and nonmotor symptoms. Although the basal ganglia is traditionally the primary brain region implicated in this disease process, this limited view ignores the roles of the cortex and cerebellum that are networked with the basal ganglia to support motor and cognitive functions. In particular, recent research has highlighted dysfunction in the supplementary motor complex (SMC) in patients with PD. Using the PubMed and Google Scholar search engines, we identified research articles using keywords pertaining to the involvement of the SMC in action sequencing impairments, temporal processing disturbances, and gait impairment in patients with PD. A review of abstracts and full-text articles was used to identify relevant articles. In this review of 63 articles, we focus on the role of the SMC in PD, highlighting anatomical and functional data to create new perspectives in understanding clinical symptoms and, potentially, new therapeutic targets. The SMC has a nuanced role in the pathophysiology of PD, with both hypo- and hyperactivation associated with various symptoms. Further studies using more standardized patient populations and functional tasks are needed to more clearly elucidate the role of this region in the pathophysiology and treatment of PD.

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Citations to this article as recorded by

Sensorimotor network connectivity correlates with motor improvement after repetitive transcranial magnetic stimulation in patients with Parkinson's disease
Shumei Chi, Xinrui Wen, Yang Yu, Guanjun Wang, Jie Zhang, Chuang Xue, Xiaoying Zhang, Zheng Wang, Meiduo Gesang, Jiefang Chen, Sha Wu, Man Jin, Jian Liu, Benyan Luo
Parkinsonism & Related Disorders.2023; 106: 105218. CrossRef
A new model for freedom of movement using connectomic analysis
Diego Alonzo Rodríguez-Méndez, Daniel San-Juan, Mark Hallett, Chris G. Antonopoulos, Erick López-Reynoso, Ricardo Lara-Ramírez
PeerJ.2022; 10: e13602. CrossRef
Cortical and subcortical morphological alterations in motor subtypes of Parkinson’s disease
Jianyu Li, Yuanchao Zhang, Zitong Huang, Yihan Jiang, Zhanbing Ren, Daihong Liu, Jiuquan Zhang, Roberta La Piana, Yifan Chen
npj Parkinson's Disease.2022;[Epub] CrossRef

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