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From articles published in Journal of Movement Disorders during the past two years (2021 ~ ).

Review Article
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
  • 8,156 View
  • 565 Download
  • 18 Citations
AbstractAbstract PDF
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

Citations to this article as recorded by  
  • 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;[Epub]     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
  • 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
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
  • 6,504 View
  • 216 Download
  • 13 Citations
AbstractAbstract 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.

Citations

Citations to this article as recorded by  
  • The impact of device-assisted therapies on the gut microbiome in Parkinson’s disease
    Michal Lubomski, Xiangnan Xu, Andrew J. Holmes, Jean Y. H. Yang, Carolyn M. Sue, Ryan L. Davis
    Journal of Neurology.2022; 269(2): 780.     CrossRef
  • Predictive Model of Quality of Life in Patients with Parkinson’s Disease
    Eduardo Candel-Parra, María Pilar Córcoles-Jiménez, Victoria Delicado-Useros, Marta Carolina Ruiz-Grao, Antonio Hernández-Martínez, Milagros Molina-Alarcón
    International Journal of Environmental Research and Public Health.2022; 19(2): 672.     CrossRef
  • Die neue Parkinson-Schmerzklassifikation (PSK)
    V. Mylius, S. Perez Lloret, C. S. Brook, M. T. Krüger, S. Hägele-Link, R. Gonzenbach, J. Kassubek, S. Bohlhalter, J. P. Lefaucheur, L. Timmermann, G. Kägi, F. Brugger, D. Ciampi de Andrade, J. C. Möller
    Der Nervenarzt.2022; 93(10): 1019.     CrossRef
  • Quantification Analysis of Sleep Based on Smartwatch Sensors for Parkinson’s Disease
    Yi-Feng Ko, Pei-Hsin Kuo, Ching-Fu Wang, Yu-Jen Chen, Pei-Chi Chuang, Shih-Zhang Li, Bo-Wei Chen, Fu-Chi Yang, Yu-Chun Lo, Yi Yang, Shuan-Chu Vina Ro, Fu-Shan Jaw, Sheng-Huang Lin, You-Yin Chen
    Biosensors.2022; 12(2): 74.     CrossRef
  • Gastrointestinal Dysfunction Impact on Life Quality in a Cohort of Russian Patients with Parkinson’s Disease I-III H&Y Stage
    A. A. Pilipovich, O. V. Vorob’eva, S. A. Makarov, N. N. Shindryaeva, Yu D. Vorob’eva, Seyed-Mohammad Fereshtehnejad
    Parkinson's Disease.2022; 2022: 1.     CrossRef
  • Nutritional Intake and Gut Microbiome Composition Predict Parkinson’s Disease
    Michal Lubomski, Xiangnan Xu, Andrew J. Holmes, Samuel Muller, Jean Y. H. Yang, Ryan L. Davis, Carolyn M. Sue
    Frontiers in Aging Neuroscience.2022;[Epub]     CrossRef
  • The Gut Microbiome in Parkinson’s Disease: A Longitudinal Study of the Impacts on Disease Progression and the Use of Device-Assisted Therapies
    Michal Lubomski, Xiangnan Xu, Andrew J. Holmes, Samuel Muller, Jean Y. H. Yang, Ryan L. Davis, Carolyn M. Sue
    Frontiers in Aging Neuroscience.2022;[Epub]     CrossRef
  • Characteristics and quality of life of substance users and their caregivers
    Jadranka M. Maksimovic, Olivera B. Sbutega, Aleksandar D. Pavlovic, Hristina D. Vlajinac, Ivana I. Kavecan, Isidora S. Vujcic, Sandra B. Grujicic Sipetic
    Medicine.2022; 101(31): e29699.     CrossRef
  • Defining the unknowns for cell therapies in Parkinson's disease
    Emma L. Lane, Mariah J. Lelos
    Disease Models & Mechanisms.2022;[Epub]     CrossRef
  • Increased Added Sugar Consumption Is Common in Parkinson's Disease
    Natalie C. Palavra, Michal Lubomski, Victoria M. Flood, Ryan L. Davis, Carolyn M. Sue
    Frontiers in Nutrition.2021;[Epub]     CrossRef
  • Relationship Satisfaction in People with Parkinson’s Disease and Their Caregivers: A Cross-Sectional Observational Study
    Johanne Heine, Hannah von Eichel, Selma Staege, Günter U. Höglinger, Florian Wegner, Martin Klietz
    Brain Sciences.2021; 11(6): 822.     CrossRef
  • Diagnosis and Management of Pain in Parkinson's Disease: A New Approach
    Veit Mylius, Jens Carsten Möller, Stephan Bohlhalter, Daniel Ciampi de Andrade, Santiago Perez Lloret
    Drugs & Aging.2021; 38(7): 559.     CrossRef
  • Cognitive Influences in Parkinson's Disease Patients and Their Caregivers: Perspectives From an Australian Cohort
    Michal Lubomski, Ryan L. Davis, Carolyn M. Sue
    Frontiers in Neurology.2021;[Epub]     CrossRef
Review Article
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
  • 6,433 View
  • 394 Download
  • 9 Citations
AbstractAbstract 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  
  • 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
    Biomedicine & Pharmacotherapy.2022; 155: 113697.     CrossRef
  • 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
Telemedicine in an Academic Movement Disorders Center during COVID-19
Christine Doss Esper, Laura Scorr, Sosi Papazian, Daniel Bartholomew, Gregory Jacob Esper, Stewart Alan Factor
J Mov Disord. 2021;14(2):119-125.   Published online March 18, 2021
DOI: https://doi.org/10.14802/jmd.20099
  • 4,076 View
  • 134 Download
  • 8 Citations
AbstractAbstract PDF
Objective
Telemedicine has rapidly gained momentum in movement disorder neurology during the coronavirus disease (COVID-19) pandemic to preserve clinical care while mitigating the risks of in-person visits. We present data from the rapid implementation of virtual visits in a large, academic, movement disorder practice during the COVID-19 pandemic.
Methods
We describe the strategic shift to virtual visits and retrospectively examine elements that impacted the ability to switch to telemedicine visits using historical prepandemic in-person data as a comparator, including demographics, distance driven, and diagnosis distribution, with an additional focus on patients with deep brain stimulators.
Results
A total of 686 telemedicine visits were performed over a five-week period (60% of those previously scheduled for in-office visits). The average age of participants was 65 years, 45% were female, and 73% were Caucasian. Men were more likely to make the transition (p = 0.02). Telemedicine patients lived farther from the clinic than those seen in person (66.47 km vs. 42.16 km, p < 0.001), age was not associated with making the switch, and patient satisfaction did not change. There was a significant shift in the distribution of movement disorder diagnoses seen by telemedicine compared to prepandemic in-person visits (p < 0.001). Patients with deep brain stimulators were more likely to use telemedicine (11.5% vs. 7%, p < 0.001).
Conclusion
Telemedicine is feasible, viable and relevant in the care of movement disorder patients, although health care disparities appear evident for women and minorities. Patients with deep brain stimulators preferred telemedicine in our study. Further study is warranted to explore these findings.

Citations

Citations to this article as recorded by  
  • Telemedicine in Neurology: A Scoping Review of Key Outcomes in Movement Disorders
    Emily Houston, Amanda G. Kennedy, Donna O'Malley, Terry Rabinowitz, Gail L. Rose, James Boyd
    Telemedicine and e-Health.2022; 28(3): 295.     CrossRef
  • Clinician and patient experience of neurology telephone consultations during the COVID-19 pandemic
    Tagore Nakornchai, Elena Conci, Anke Hensiek, J William L Brown
    Postgraduate Medical Journal.2022; 98(1161): 533.     CrossRef
  • Moving Forward from the COVID-19 Pandemic: Needed Changes in Movement Disorders Care and Research
    B. Y. Valdovinos, J. S. Modica, R. B. Schneider
    Current Neurology and Neuroscience Reports.2022; 22(2): 113.     CrossRef
  • Movement Disorder Specialists Survey Regarding Use of Telemedicine During the COVID-19 Pandemic
    Shadi Ghourchian, Yasar A. Torres-Yaghi, Stuart H. Isaacson, Fernando Pagan, Kelly E. Lyons, Brian James Nagle, Sanskruti Patel, Rajesh Pahwa
    Telemedicine and e-Health.2022; 28(11): 1651.     CrossRef
  • Attitudes Toward Telehealth Services Among People Living With Parkinson's Disease: A Survey Study
    Yaqian Xu, Megan P. Feeney, Matthew Surface, Dan Novak, Michelle S. Troche, James C. Beck, Roy N. Alcalay
    Movement Disorders.2022; 37(6): 1289.     CrossRef
  • Service process factors affecting patients’ and clinicians’ experiences on rapid teleconsultation implementation in out-patient neurology services during COVID-19 pandemic: a scoping review
    Guangxia Meng, Carrie McAiney, Christopher M. Perlman, Ian McKillop, Therese Tisseverasinghe, Helen H. Chen
    BMC Health Services Research.2022;[Epub]     CrossRef
  • Telemedicine in the Management of Parkinson’s Disease: Achievements, Challenges, and Future Perspectives
    Esther Cubo, Pedro David Delgado-López
    Brain Sciences.2022; 12(12): 1735.     CrossRef
  • Clinician Perceptions of the Negative Impact of Telehealth Services in the Management of Drug-Induced Movement Disorders and Opportunities for Quality Improvement: A 2021 Internet-Based Survey
    Rimal Bera, Morgan Bron, Betsy Benning, Samantha Cicero, Heintje Calara, Diane Darling, Ericha Franey, Kendra Martello, Charles Yonan
    Neuropsychiatric Disease and Treatment.2022; Volume 18: 2945.     CrossRef
Letters to the editor
Chorea as a Presentation of SARS-CoV-2 Encephalitis: A Clinical Case Report
Muhammad Hassan, Fibhaa Syed, Liaqat Ali, Haris Majid Rajput, Farhan Faisal, Waleed Shahzad, Mazhar Badshah
J Mov Disord. 2021;14(3):245-247.   Published online March 15, 2021
DOI: https://doi.org/10.14802/jmd.20098
  • 5,791 View
  • 168 Download
  • 8 Citations
PDFSupplementary Material

Citations

Citations to this article as recorded by  
  • Relationship between COVID‐19 and movement disorders: A narrative review
    Susanne A. Schneider, Anita Hennig, Davide Martino
    European Journal of Neurology.2022; 29(4): 1243.     CrossRef
  • Comment on “Chorea as a Presentation of SARS-CoV-2 Encephalitis: A Clinical Case Report”
    Ruth H. Walker
    Journal of Movement Disorders.2022; 15(1): 93.     CrossRef
  • Re: Comments on “Chorea as a Presentation of SARS-CoV-2 Encephalitis: A Clinical Case Report”
    Muhammad Hassan, Naveed Ullah Khan, Mazhar Badshah
    Journal of Movement Disorders.2022; 15(1): 94.     CrossRef
  • Encephalitis in Patients with COVID-19: A Systematic Evidence-Based Analysis
    Md Asiful Islam, Cinzia Cavestro, Sayeda Sadia Alam, Shoumik Kundu, Mohammad Amjad Kamal, Faruque Reza
    Cells.2022; 11(16): 2575.     CrossRef
  • Chorea as a Post‐COVID ‐19 Complication
    Farzad Ashrafi, Mehri Salari, Fatemeh Hojjati Pour
    Movement Disorders Clinical Practice.2022; 9(8): 1144.     CrossRef
  • Neurological manifestations in COVID-19: how relevant is this association?
    Manuela DE MICHELE, Irene BERTO, Luca PETRAGLIA, Oscar G. SCHIAVO, Federica MORET, Ettore NICOLINI, Nicoletta CARACCIOLO, Maria Teresa DI MASCIO, Danilo TONI
    Italian Journal of Emergency Medicine.2021;[Epub]     CrossRef
  • Sars‐Cov ‐2 in a Patient with Acute Chorea: Innocent Bystander or Unexpected Actor?
    Matteo Cotta Ramusino, Giulia Perini, Gabriele Corrao, Lisa Farina, Giulia Berzero, Mauro Ceroni, Alfredo Costa
    Movement Disorders Clinical Practice.2021; 8(6): 950.     CrossRef
  • Neurological complications of SARS-CoV-2: A single-center case series authors
    Muhammad Hassan, Naveed Ullah Khan, Mansoor Iqbal, Zakir Jan, Haris Majid Rajput, Rebecca Susan Dewey, Mazhar Badshah
    Brain Hemorrhages.2021; 2(4): 161.     CrossRef
COVID-19 Associated Acute Necrotizing Encephalopathy Presenting as Parkinsonism and Myorhythmia
Tien Lee Ong, Khariah Mat Nor, Yusniza Yusoff, Sapiah Sapuan
J Mov Disord. 2022;15(1):89-92.   Published online November 17, 2021
DOI: https://doi.org/10.14802/jmd.21063
  • 2,989 View
  • 151 Download
  • 7 Citations
PDFSupplementary Material

Citations

Citations to this article as recorded by  
  • Steroid administration for post‐COVID‐19 Parkinsonism: A case report
    Witoon Mitarnun, Metha Apiwattanakul, Thanatchanan Thodthasri, Praewa Tantisungvarakoon, Wilasinee Pangwong
    Neurology and Clinical Neuroscience.2023; 11(1): 49.     CrossRef
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    Anna Drelich-Zbroja, Mateusz Cheda, Maryla Kuczyńska, Izabela Dąbrowska, Ewa Kopyto, Izabela Halczuk
    Brain Sciences.2022; 12(2): 143.     CrossRef
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    Jeremy M. Morowitz, Kaylyn B. Pogson, Daniel A. Roque, Frank C. Church
    Brain Sciences.2022; 12(5): 536.     CrossRef
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    Iro Boura, Kallol Ray Chaudhuri
    Movement Disorders Clinical Practice.2022; 9(5): 584.     CrossRef
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    Francesco Cavallieri, Valentina Fioravanti, Francesco Bove, Eleonora Del Prete, Sara Meoni, Sara Grisanti, Marialuisa Zedde, Rosario Pascarella, Elena Moro, Franco Valzania
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    Valentina Leta, Daniele Urso, Lucia Batzu, Yue Hui Lau, Donna Mathew, Iro Boura, Vanessa Raeder, Cristian Falup-Pecurariu, Daniel van Wamelen, K. Ray Chaudhuri
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    Wilson K.W. Fung, Alfonso Fasano, Conor Fearon
    Movement Disorders Clinical Practice.2022;[Epub]     CrossRef
Case Report
Myoclonus-Ataxia Syndrome Associated with COVID-19
Kuldeep Shetty, Atul Manchakrao Jadhav, Ranjith Jayanthakumar, Seema Jamwal, Tejaswini Shanubhogue, Mallepalli Prabhakar Reddy, Gopal Krishna Dash, Radhika Manohar, Vivek Jacob Philip, Vikram Huded
J Mov Disord. 2021;14(2):153-156.   Published online April 6, 2021
DOI: https://doi.org/10.14802/jmd.20106
  • 5,288 View
  • 166 Download
  • 7 Citations
AbstractAbstract PDFSupplementary Material
Neurological manifestations of coronavirus disease (COVID-19) have increasingly been reported since the onset of the pandemic. Herein, we report a relatively new presentation. A patient in the convalescence period following a febrile illness with lower respiratory tract infection (fever, myalgia, nonproductive cough) presented with generalized disabling myoclonus, which is phenotypically suggestive of brainstem origin, along with additional truncal cerebellar ataxia. His neurology work-ups, such as brain MRI, electroencephalography, serum autoimmune and paraneoplastic antibody testing, were normal. His CT chest scan revealed right lower lung infiltrates, and serological and other laboratory testing did not show evidence of active infection. COVID-19 titers turned out to be strongly positive, suggestive of post-COVID-19 lung sequelae. He responded partially to antimyoclonic drugs and fully to a course of steroids, suggesting a para- or postinfectious immune-mediated pathophysiology. Myoclonusataxia syndrome appears to be a neurological manifestation of COVID-19 infection, and knowledge regarding this phenomenon should be increased among clinicians for better patient care in a pandemic situation.

Citations

Citations to this article as recorded by  
  • Temporal Changes in Brain Perfusion in a Patient with Myoclonus and Ataxia Syndrome Associated with COVID-19
    Kenta Osawa, Atsuhiko Sugiyama, Akiyuki Uzawa, Shigeki Hirano, Tatsuya Yamamoto, Masahiko Nezu, Nobuyuki Araki, Hiroki Kano, Satoshi Kuwabara
    Internal Medicine.2022; 61(7): 1071.     CrossRef
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    Sidhartha Chattopadhyay, Judhajit Sengupta, Sagar Basu
    Clinical and Experimental Neuroimmunology.2022; 13(4): 323.     CrossRef
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    Rizaldy Taslim Pinzon, Vincent Ongko Wijaya, Abraham Al Jody, Patrick Nalla Nunsio, Ranbebasa Bijak Buana
    Journal of Infection and Public Health.2022; 15(8): 856.     CrossRef
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    Guglielmo Lucchese, Antje Vogelgesang, Fabian Boesl, Dina Raafat, Silva Holtfreter, Barbara M. Bröker, Angela Stufano, Robert Fleischmann, Harald Prüss, Christiana Franke, Agnes Flöel
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  • Post–COVID ‐19 Myoclonus–Ataxia Syndrome Responsive to Intravenous Immunoglobulins
    Massimiliano Godani, Alessandro Beronio, Giuseppe Lanza
    Movement Disorders Clinical Practice.2022;[Epub]     CrossRef
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    Josef Finsterer, Fulvio A. Scorza
    Neuro-Ophthalmology.2022; : 1.     CrossRef
  • Anti-GAD associated post-infectious cerebellitis after COVID-19 infection
    Ahmed Serkan Emekli, Asuman Parlak, Nejla Yılmaz Göcen, Murat Kürtüncü
    Neurological Sciences.2021; 42(10): 3995.     CrossRef
Review Article
Parkinson’s Disease and the COVID-19 Pandemic: A Review Article on the Association between SARS-CoV-2 and α-Synucleinopathy
Smriti Sinha, Swati Mittal, Rupali Roy
J Mov Disord. 2021;14(3):184-192.   Published online July 29, 2021
DOI: https://doi.org/10.14802/jmd.21046
  • 4,403 View
  • 204 Download
  • 6 Citations
AbstractAbstract PDF
There is an extensive debate on the neurological consequences of 2019 novel coronavirus disease (COVID-19) and its impact on Parkinson’s disease (PD) patients, which seems to puzzle neurologists. Links between viral infections and PD have long been suspected and studied, but the exact relationship remains elusive. Since severe acute respiratory syndrome coronavirus 2 (SARSCoV- 2) enters the brain through multiple routes and has a direct impact on the brain, cumulative damage occurs due to the activation of proinflammatory cytokines and chemokines. SARS-CoV-2 seems to aggravate PD due to its effects on α-synuclein, mitochondrial dysfunction, and dopamine depletion. A few studies have even highlighted the higher vulnerability of PD patients to COVID-19. The sudden dramatic change in lifestyle caused by the pandemic and the widespread lockdowns that were implemented have added to the hidden sorrows of PD patients, as they already have a compromised mechanism for coping with stress. This review summarizes insights from basic science and the clinical effect of SARS-CoV-2 infection on the human brain, with a specific focus on PD.

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  • Links between COVID-19 and Parkinson’s disease/Alzheimer’s disease: reciprocal impacts, medical care strategies and underlying mechanisms
    Pei Huang, Lin-Yuan Zhang, Yu-Yan Tan, Sheng-Di Chen
    Translational Neurodegeneration.2023;[Epub]     CrossRef
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    Zhengcun Wu, Xiuao Zhang, Zhangqiong Huang, Kaili Ma
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    Francesco Cavallieri, Valentina Fioravanti, Francesco Bove, Eleonora Del Prete, Sara Meoni, Sara Grisanti, Marialuisa Zedde, Rosario Pascarella, Elena Moro, Franco Valzania
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    Valentina Fioravanti, Francesco Cavallieri, Alessio Di Fonzo, Giulia Toschi, Sara Grisanti, Gaetano Salomone, Mario Zappia, Franco Valzania
    Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.2022; : 1.     CrossRef
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    Pi-Ching Hsu, Md. Shahed-Al-Mahmud
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Original Article
The Queensland Parkinson’s Project: An Overview of 20 Years of Mortality from Parkinson’s Disease
Peter Cornelis Poortvliet, Alexander Gluch, Peter A. Silburn, George D. Mellick
J Mov Disord. 2021;14(1):34-41.   Published online December 7, 2020
DOI: https://doi.org/10.14802/jmd.20034
  • 6,738 View
  • 177 Download
  • 6 Citations
AbstractAbstract PDF
Objective
The consensus is that life expectancy for individuals with Parkinson’s disease (PD) is reduced, but estimations vary. We aimed to provide an overview of 20 years of mortality and risk factor data from the Queensland Parkinson’s Project.
Methods
The analysis included 1,334 PD and 1,127 control participants. Preliminary analysis of baseline characteristics (sex, age at onset, family history, smoking status, pesticide exposure, depression and neurosurgery) was conducted, and Kaplan–Meier curves were generated for each potential risk factor. Standardized mortality ratios (SMRs) were calculated comparing this cohort to the general Australian population. Cox proportional hazards regression modeling was used to analyze potential predictors of mortality.
Results
In total, 625 (46.8%) PD and 237 (21.0%) control participants were deceased. Mean disease duration until death was 15.3 ± 7.84 years. Average ages at death were 78.0 ± 7.4 years and 80.4 ± 8.4 years for the deceased PD and control participants, respectively. Mortality was significantly increased for PD in general {SMR = 2.75 [95% confidence interval (CI): 2.53–2.96]; p = 0.001}. SMRs were slightly higher for women and those with an age of onset before 60 years. Multivariate analysis showed that deep brain stimulation (DBS) treatment was associated with lower mortality [hazard ratio (HR) = 0.76; 95% CI: 0.59–0.98], while occasional pesticide exposure increased mortality risk (HR = 1.48; 95% CI: 1.17–1.88). Family history of PD, smoking and depression were not independent predictors of mortality.
Conclusion
Mortality in PD is increased. Sex, age at onset and occasional pesticide exposure were independent determinants of increased mortality, while DBS treatment was associated with reduced mortality.

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  • Mortality of Parkinson’s disease in Italy from 1980 to 2015
    Monica Ulivelli, Daiana Bezzini, Lucia Kundisova, Ilaria Grazi, Mario Alberto Battaglia, Nicola Nante, Simone Rossi
    Neurological Sciences.2022; 43(6): 3603.     CrossRef
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    Brage Brakedal, Lilah Toker, Kristoffer Haugarvoll, Charalampos Tzoulis
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  • Australian Parkinson’s Genetics Study (APGS): pilot (n=1532)
    Svetlana Bivol, George D Mellick, Jacob Gratten, Richard Parker, Aoibhe Mulcahy, Philip E Mosley, Peter C Poortvliet, Adrian I Campos, Brittany L Mitchell, Luis M Garcia-Marin, Simone Cross, Mary Ferguson, Penelope A Lind, Danuta Z Loesch, Peter M Vissche
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    Shashank Masaldan, Sylvie Callegari, Grant Dewson
    Biochemical Society Transactions.2022; 50(2): 783.     CrossRef
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    Ioannis C. Lampropoulos, Foteini Malli, Olga Sinani, Konstantinos I. Gourgoulianis, Georgia Xiromerisiou
    Frontiers in Neurology.2022;[Epub]     CrossRef
  • Effects of physician visit frequency for Parkinson’s disease treatment on mortality, hospitalization, and costs: a retrospective cohort study
    Takako Fujita, Akira Babazono, Sung-a Kim, Aziz Jamal, Yunfei Li
    BMC Geriatrics.2021;[Epub]     CrossRef
Review Article
Emerging Nondopaminergic Medications for Parkinson’s Disease: Focusing on A2A Receptor Antagonists and GLP1 Receptor Agonists
Pei Shang, Matthew Baker, Samantha Banks, Sa-Ik Hong, Doo-Sup Choi
J Mov Disord. 2021;14(3):193-203.   Published online August 18, 2021
DOI: https://doi.org/10.14802/jmd.21035
  • 3,774 View
  • 176 Download
  • 5 Citations
AbstractAbstract PDF
Parkinson’s disease (PD) is a severe neurodegenerative disease characterized by classic motor features associated with the loss of dopaminergic neurons and appearance of Lewy bodies in the substantia nigra. Due to the complexity of PD, a definitive diagnosis in the early stages and effective management of symptoms in later stages are difficult to achieve in clinical practice. Previous research has shown that colocalization of A2A receptors (A2AR) and dopamine D2 receptors (D2R) may induce an antagonistic interaction between adenosine and dopamine. Clinical trials have found that the A2AR antagonist istradefylline decreases dyskinesia in PD and could be used as an adjuvant to levodopa treatment. Meanwhile, the incretin hormone glucagon-like peptide 1 (GLP1) mainly facilitates glucose homeostasis and insulin signaling. Preclinical experiments and clinical trials of GLP1 receptor (GLP1R) agonists show that they may be effective in alleviating neuroinflammation and sustaining cellular functions in the central nervous system of patients with PD. In this review, we summarize up-to-date findings on the usefulness of A2AR antagonists and GLP1R agonists in PD management. We explain the molecular mechanisms of these medications and their interactions with other neurotransmitter receptors. Furthermore, we discuss the efficacy and limitations of A2AR antagonists and GLP1R agonists in clinical practice.

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    Soo-Min Jung, Lee Peyton, Hesham Essa, Doo-Sup Choi
    Neurobiology of Pain.2022; 11: 100087.     CrossRef
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    Andrea Spinaci, Catia Lambertucci, Michela Buccioni, Diego Dal Ben, Claudia Graiff, Maria Cristina Barbalace, Silvana Hrelia, Cristina Angeloni, Seyed Khosrow Tayebati, Massimo Ubaldi, Alessio Masi, Karl-Norbert Klotz, Rosaria Volpini, Gabriella Marucci
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    Stefania Merighi, Pier Andrea Borea, Katia Varani, Fabrizio Vincenzi, Alessia Travagli, Manuela Nigro, Silvia Pasquini, R. Rama Suresh, Sung Won Kim, Nora D. Volkow, Kenneth A. Jacobson, Stefania Gessi
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    Melissa Talita Wiprich, Stefani Altenhofen, Darlan Gusso, Rafaela da Rosa Vasques, Rodrigo Zanandrea, Luiza Wilges Kist, Mauricio Reis Bogo, Carla Denise Bonan
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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
  • 15,177 View
  • 238 Download
  • 5 Citations
AbstractAbstract 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.

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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
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    Xiao-qin Liu, Xiao-yu Wang, Hui-ming Shen, Wen-yuan Pang, Ming-kang Zhong, Chun-lai Ma
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  • 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
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    Matthew J. Farrer
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  • 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, Rodolfo Savica, Eng‐King Tan, Raja Mehanna, Katarzyna Smilowska, Conn
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Case Report
Dystonia Responsive to Dopamine: POLG Mutations Should Be Considered If Sensory Neuropathy Is Present
Jessica Qiu, Kishore Raj Kumar, Eloise Watson, Kate Ahmad, Carolyn M. Sue, Michael W. Hayes
J Mov Disord. 2021;14(2):157-160.   Published online May 26, 2021
DOI: https://doi.org/10.14802/jmd.20159
  • 3,983 View
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  • 5 Citations
AbstractAbstract PDFSupplementary Material
The POLG gene encodes mitochondrial DNA polymerase, and mutations in this gene cause a spectrum of disorders related to mitochondrial DNA depletion or deletion. Dystonia has only rarely been reported as an early and prominent manifestation of POLG mutations. We report a case of a 30-year-old male presenting with lower limb dystonia with peripheral neuropathy and demonstrate that the dystonia was levodopa responsive (with video findings). Whole-genome sequencing revealed biallelic variants in the POLG gene: a known pathogenic variant [NM_001126131.2:c.2209G>C (p.Gly737Arg)] and a novel likely pathogenic variant [NM_001126131.2:c.3305A>C (p.Gln1102Pro)]. A genetic diagnosis was made before the appearance of more readily recognizable features of mitochondrial disease, allowing us to avoid invasive tissue biopsies or potentially deleterious treatments, such as sodium valproate. A POLG-related disorder should be suspected in cases of dystonia with peripheral neuropathy, and this diagnosis may have implications for further investigations and management.

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  • Possible EIF2AK2 ‐Associated Stress‐Related Neurological Decompensation with Combined Dystonia and Striatal Lesions
    Sophie E. Waller, Hugo Morales‐Briceño, Laura Williams, Shekeeb S. Mohammad, Avi Fellner, Kishore R. Kumar, Michel Tchan, Victor S.C. Fung
    Movement Disorders Clinical Practice.2022; 9(2): 240.     CrossRef
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    Francesco Gentile, Alessandro Bertini, Alberto Priori, Tommaso Bocci
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  • Transgenic Mice for the Translational Study of Neuropathic Pain and Dystonia
    Damiana Scuteri, Kengo Hamamura, Chizuko Watanabe, Paolo Tonin, Giacinto Bagetta, Maria Tiziana Corasaniti
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    O. Abu-hadid, J. Jimenez-Shahed
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    Damiana Scuteri, Laura Rombolà, Silvia Natoli, Antonio Pisani, Paola Bonsi, Kengo Hamamura, Giacinto Bagetta, Paolo Tonin, Maria Tiziana Corasaniti
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Review Article
Perry Disease: Concept of a New Disease and Clinical Diagnostic Criteria
Yoshio Tsuboi, Takayasu Mishima, Shinsuke Fujioka
J Mov Disord. 2021;14(1):1-9.   Published online September 21, 2020
DOI: https://doi.org/10.14802/jmd.20060
  • 6,096 View
  • 350 Download
  • 5 Citations
AbstractAbstract PDF
Perry disease is a hereditary neurodegenerative disease with autosomal dominant inheritance. It is characterized by parkinsonism, psychiatric symptoms, unexpected weight loss, central hypoventilation, and transactive-response DNA-binding protein of 43kD (TDP-43) aggregation in the brain. In 2009, Perry disease was found to be caused by dynactin I gene (DCTN1), which encodes dynactin subunit p150 on chromosome 2p, in patients with the disease. The dynactin complex is a motor protein that is associated with axonal transport. Presently, at least 8 mutations and 22 families have been reported; other than the “classic” syndrome, distinct phenotypes are recognized. The neuropathology of Perry disease reveals severe degeneration in the substantia nigra and TDP-43 inclusions in the basal ganglia and brain stem. How dysfunction of the dynactin molecule is related to TDP-43 pathology in Perry disease is important to elucidate the pathological mechanism and develop new treatment.

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  • Extubation failure due to atypical parkinsonism with negligible motor and variable non-motor symptoms associated with a variant of DCTN1
    Hidetada Yamada, Shuichiro Neshige, Hiroyuki Morino, Hirofumi Maruyama
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    Fangzhi Jia, Avi Fellner, Kishore Raj Kumar
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    Emanuel Silva, Tatiana Itzcovich, Matías Niikado, Alejandro Caride, Elmer Fernández, Juan Carlos Vázquez, Leonardo Romorini, Mariela Marazita, Gustavo Sevlever, Horacio Martinetto, Ezequiel I. Surace
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  • Clinical, pathological and genetic characteristics of Perry disease—new cases and literature review
    Jarosław Dulski, Catalina Cerquera‐Cleves, Lukasz Milanowski, Alexa Kidd, Emilia J. Sitek, Audrey Strongosky, Ana María Vanegas Monroy, Dennis W. Dickson, Owen A. Ross, Jolanta Pentela‐Nowicka, Jarosław Sławek, Zbigniew K. Wszolek
    European Journal of Neurology.2021; 28(12): 4010.     CrossRef
  • Behavioral profile in a Dctn1G71A knock-in mouse model of Perry disease
    Manami Deshimaru, Takayasu Mishima, Takuya Watanabe, Kaori Kubota, Mana Hosoi, Mariko Kinoshita-Kawada, Junichi Yuasa-Kawada, Maiko Ikeda, Masayoshi Mori, Yusuke Murata, Takaya Abe, Munechika Enjoji, Hiroshi Kiyonari, Shohta Kodama, Shinsuke Fujioka, Kats
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Case Report
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
J Mov Disord. 2022;15(2):171-174.   Published online March 22, 2022
DOI: https://doi.org/10.14802/jmd.21143
  • 1,654 View
  • 160 Download
  • 4 Citations
AbstractAbstract PDF
Mutations in the manganese transporter gene SLC39A14 lead to inherited disorders of manganese metabolism. Chelation therapy with edetate calcium disodium (CaNa2EDTA) is known to effectively reduce manganese deposition. We describe the first identified Korean case of SLC39A14-associated manganism and the treatment response to a 5-year chelation therapy. An 18-year-old female presented with childhood-onset dystonia. Magnetic resonance imaging showed T1 hyperintensity throughout the basal ganglia, brainstem, cerebellum, cerebral and cerebellar white matter, and pituitary gland. Blood manganese levels were elevated, and whole-exome sequencing revealed compound heterozygous mutations in SLC39A14. Treatment with intravenous CaNa2EDTA led to a significant reduction in serum manganese levels and T1 hyperintensities. However, her dystonia improved insignificantly. Hence, early diagnosis of this genetic disorder is essential because it is potentially treatable. Even though our treatment did not significantly reverse the establish deficits, chelation therapy could have been more effective if it was started at an earlier stage of the disease.

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  • Loss of slc39a14 causes simultaneous manganese hypersensitivity and deficiency in zebrafish
    Karin Tuschl, Richard J. White, Chintan Trivedi, Leonardo E. Valdivia, Stephanie Niklaus, Isaac H. Bianco, Chris Dadswell, Ramón González-Méndez, Ian M. Sealy, Stephan C. F. Neuhauss, Corinne Houart, Jason Rihel, Stephen W. Wilson, Elisabeth M. Busch-Nent
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    Alexander N. Rodichkin, Tomás R. Guilarte
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    Alexander N. Rodichkin, Melissa K. Edler, Jennifer L. McGlothan, Tomás R. Guilarte
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    Edward Pajarillo, Ivan Nyarko-Danquah, Alexis Digman, Harpreet Kaur Multani, Sanghoon Kim, Patric Gaspard, Michael Aschner, Eunsook Lee
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Review Article
Gene Therapy for Huntington’s Disease: The Final Strategy for a Cure?
Seulgi Byun, Mijung Lee, Manho Kim
J Mov Disord. 2022;15(1):15-20.   Published online November 17, 2021
DOI: https://doi.org/10.14802/jmd.21006
  • 4,044 View
  • 364 Download
  • 4 Citations
AbstractAbstract PDF
Huntington’s disease (HD) has become a target of the first clinical trials for gene therapy among movement disorders with a genetic origin. More than 100 clinical trials regarding HD have been tried, but all failed, although there were some improvements limited to symptomatic support. Compared to other neurogenetic disorders, HD is known to have a single genetic target. Thus, this is an advantage and its cure is more feasible than any other movement disorder with heterogeneous genetic causes. In this review paper, the authors attempt to cover the characteristics of HD itself while providing an overview of the gene transfer methods currently being researched, and will introduce an experimental trial with a preclinical model of HD followed by an update on the ongoing clinical trials for patients with HD.

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    Zainab Irfan, Sofia Khanam, Varnita Karmakar, Sayeed Mohammed Firdous, Bothaina Samih Ismail Abou El Khier, Ilyas Khan, Muneeb U. Rehman, Andleeb Khan
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JMD : Journal of Movement Disorders