Journal of Movement Disorders

Volume 14(2); May 2021

Review Articles

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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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.

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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.2024; 202(2): 778. CrossRef
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
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
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Small noncoding RNA dysregulation is implicated in manganism in a rat model of methylcyclopentadienyl manganese tricarbonyl-induced unrepaired striatum damage
Qifeng Zhu, Fan Jiang, Yuanbo Song, Lili Lu, Fajian He, Shuqi Huang, Zhaoying Huang, Jing Yao, Ningning Lei, Jianmin Huang, Shijin Lu
The Journal of Toxicological Sciences.2023; 48(10): 535. 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
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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
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Manganese‐induced parkinsonism responsive to intranasal insulin: A case report
Mehri Salari, Masoud Etemadifar, Leila Dargahi, Neda Valian, Malihe Rezaee
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The potential convergence of NLRP3 inflammasome, potassium, and dopamine mechanisms in Parkinson’s disease
Adrianne F. Pike, Ildikò Szabò, Robert Veerhuis, Luigi Bubacco
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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

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.

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Parkinson’s Disease is Predominantly a Genetic Disease
Shen-Yang Lim, Christine Klein
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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
Analysis of Genetic and MRI Changes, Blood Markers, and Risk Factors in a Twin Pair Discordant of Progressive Supranuclear Palsy
Aliz Persely, Beatrix Beszedics, Krisztina Paloczi, Marton Piroska, Amirreza Alijanpourotaghsara, David Strelnikov, Arsalan Vessal, Helga Szabo, Anita Hernyes, Luca Zoldi, Zsofia Jokkel, Andrea Fekete, Janos Juhasz, Nora Makra, Dora Szabo, Edit Buzas, Ada
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Viewpoint

Minipolymyoclonus: A Critical Appraisal: Jacky Ganguly, Jia Ren Chai, Mandar Jog; J Mov Disord. 2021;14(2):114-118. Published online May 26, 2021; DOI: https://doi.org/10.14802/jmd.20166

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PDF

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Wilson K. W. Fung, Qais Sa'di, Hans Katzberg, Robert Chen, Anthony E. Lang, Angela M. Cheung, Alfonso Fasano
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Abhishek Lenka, Joseph Jankovic
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Finger trembling improvement after surgery in Hirayama disease: a case report
Nobuaki Tadokoro, Kyuichi Hashimoto, Katsuhito Kiyasu, Yusuke Kasai, Naoki Aoyama, Ryuichi Takemasa, Masahiko Ikeuchi
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Commentary: Atypical, Early‐Onset Dystonia‐Parkinsonism with Oculogyric Crises and Anterior Horn Cell Disorder due to a Novel DJ‐1 Mutation
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Polyminimyoclonus in Hirayama disease
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BMJ Case Reports.2021; 14(10): e246831. CrossRef

Original Articles

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

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Abstract 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.

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The Importance of Digital Health Literacy in an Evolving Parkinson’s Disease Care System
Christine D. Esper, Blanca Y. Valdovinos, Ruth B. Schneider
Journal of Parkinson's Disease.2024; : 1. CrossRef
Long‐Lasting Impact of the COVID‐19 Pandemic on Patients with Parkinson's Disease and Their Relatives
Andreas Wolfgang Wolff, Bernhard Haller, Antonia Franziska Demleitner, Dominik Pürner, Johanna Niederschweiberer, Isabell Cordts, Erica Westenberg, Paul Lingor
Movement Disorders Clinical Practice.2023; 10(5): 819. CrossRef
Telemedicine technologies and applications in the era of COVID-19 pandemic: A systematic review
Esmaeil Mehraeen, SeyedAhmad SeyedAlinaghi, Mohammad Heydari, Amirali Karimi, Abdollah Mahdavi, Mehrnaz Mashoufi, Arezoo Sarmad, Peyman Mirghaderi, Ahmadreza Shamsabadi, Kowsar Qaderi, Pegah Mirzapour, Amirata Fakhfouri, Hadiseh Azadi Cheshmekabodi, Kimia
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Michael Frassica, Drew S. Kern, Mitra Afshari, Allison T. Connolly, Chengyuan Wu, Nathan Rowland, Juan Ramirez-Castaneda, Mwiza Ushe, Claudia Salazar, Xenos Mason
Frontiers in Neurology.2023;[Epub] CrossRef
Interest and Satisfaction of Telemedicine Use Among Ambulatory Neurology Patients in Western North Carolina During the COVID-19 Pandemic
K. Alexander Soltany, Reyna Segovia Molina, Carly Pappo, Sharon Thomson, Kelly Pring, Siobhan Cox, Rebecca Merrill, Emily Fishman, Alexander Ambrosini, Gabby Bognet, Kristen Dodenhoff, Heidi Munger Clary, Lauren Strauss, Rachel Graham, Amy K. Guzik, Roy E
Telemedicine and e-Health.2023;[Epub] CrossRef
Parkinson’s disease patients’ perspective on telephone visits during the COVID-19 pandemic
Marta Magriço, Miguel Serôdio, Rita Ventura, Paulo Bugalho
Journal of Neural Transmission.2023; 130(12): 1547. CrossRef
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
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Patient Knowledge, Attitude and Perceptions towards Botulinum Toxin Treatment for Movement Disorders in India: Thavasimuthu Nisha Mol, Nitish Kamble, Vikram V. Holla, Rohan Mahale, Pramod Kumar Pal, Ravi Yadav; J Mov Disord. 2021;14(2):126-132. Published online April 26, 2021; DOI: https://doi.org/10.14802/jmd.20094

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Abstract PDF Supplementary Material: Objective
There is limited literature on the knowledge, attitude, and perceptions (KAP) of botulinum toxin (BoNT) treatment among patients and caregivers. The objective of this study was to assess the KAP in patients undergoing BoNT treatment for movement disorders.
Methods
One hundred patients with movement disorders from National Institute of Mental Health and Neurosciences Hospital in Bengaluru, South India, were recruited. The patients underwent demographic, clinical, and Patient Knowledge Questionnaire on Botulinum Toxin Use in Movement Disorders (PKQ-BMD)-based evaluations.
Results
The mean age of patients at the time of presentation was 47.97 ± 14.19 years (range, 12–79). Of all the patients, 26 (28%) patients were anxious, and 86% of these patients were reassured after appropriate counseling. There were 83 (89%) patients who found BoNT to be a costlier option. Education and previous Internet searches influenced positive performance in the “knowledge” domain and overall PKQ-BMD scores. The “number of injections” was also positively correlated with KAP performance.
Conclusion
This study showed that knowledge and perceptions about BoNT treatment need to be further improved. Wider availability of the Internet has provided a positive impact on patients’ and carers’ KAP. Internet-based information, higher educational qualifications of the patients, and a higher number of BoNT injection sessions are the most important predictors of satisfactory KAP related to BoNT injection treatment in patients with movement disorders.

Factors Associated with Medication Beliefs in Patients with Parkinson’s Disease: A Cross-Sectional Study: Sung Reul Kim, Ji Young Kim, Hye Young Kim, Hui Young So, Sun Ju Chung; J Mov Disord. 2021;14(2):133-143. Published online May 3, 2021; DOI: https://doi.org/10.14802/jmd.20147

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Abstract PDF Supplementary Material

Objective
Medication beliefs are a significant determinant of medication adherence in chronic illness. This study aimed to identify demographic, clinical, and medication-related factors associated with medication beliefs in patients with Parkinson’s disease (PD).
Methods
We used a descriptive cross-sectional design with a convenience sample of 173 PD patients who had been taking antiparkinson drugs for more than one year.
Results
The subjects who believed PD medication was more necessary had more severe illness, younger age of onset, longer illness duration, and longer duration of levodopa therapy. They had higher levels of non-motor symptoms and depression, number of medication uses, number of drugs, and levodopa equivalent dose, and they reported fluctuation of motor symptoms and dyskinesia. The subjects who used catechol-O-methyltransferase (COMT) inhibitors, dopamine agonists, amantadine, and monoamine oxidase-B (MAO-B) inhibitors had significantly higher necessity scores than those who did not use them. The subjects who had higher concerns about PD medications had higher levels of non-motor symptoms and depression. The subjects using amantadine and anticholinergics had significantly higher concern scores than those who did not use them. Positive necessity-concerns differentials were associated with severe illness, the presence of motor fluctuation and dyskinesia, and the use of COMT inhibitors. Based on stepwise multiple regression, the most significant factors influencing necessity beliefs were severe illness, followed by depression and motor fluctuation.
Conclusion
Severe illness, higher levels of depression, and motor fluctuation are independent factors influencing patients’ beliefs regarding medication necessity. Therefore, these characteristics should be considered in medication belief assessment and interventions for PD patients.

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Relationship Between Medication Literacy and Beliefs Among Persons with Type 2 Diabetes Mellitus in Guangdong, China
Sifen Jiang, Zhuoqi Zhu, Guisheng Liao, Yanling Huang, Lichang Li, Kun Zeng
Patient Preference and Adherence.2023; Volume 17: 2039. CrossRef
Effect of Pillbox Organizers with Alarms on Adherence to Pharmacotherapy in Parkinson Disease Patients Taking Three and More Daily Doses of Dopaminergic Medications
Igor Straka, Michal Minar, Milan Grofik, Matej Skorvanek, Veronika Bolekova, Andrea Gazova, Jan Kyselovic, Peter Valkovic
Journal of Personalized Medicine.2022; 12(2): 179. CrossRef
Factors Related to Beliefs about Medication in Ischemic Stroke Patients
Gye-Gyoung Kim, Sung-Hee Yoo, Man-Seok Park, Hyun-Young Park, Jae-Kwan Cha
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Brief communications

Content Analysis of Korean Videos Regarding Restless Legs Syndrome on YouTube: Joohwan Kim, Ryul Kim, Jin-Sun Jun, So-Hyun Ahn, San Jung, Yang-Ki Minn, Sung Hee Hwang; J Mov Disord. 2021;14(2):144-147. Published online May 3, 2021; DOI: https://doi.org/10.14802/jmd.20137

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Abstract PDF Supplementary Material

Objective
To evaluate the accuracy and quality of Korean videos associated with restless legs syndrome (RLS) on YouTube.
Methods
A YouTube search was performed on April 1, 2020 using the term “restless legs syndrome” in the Korean language. Two reviewers coded the source, content, and demographics of the included videos. Video quality was assessed using the modified DISCERN (mDISCERN) instrument.
Results
Among the 80 videos analyzed, 44 (55.0%) were reliable, and 36 (45.0%) were misleading. There was a trend toward a higher number of mean daily views in the misleading videos than in the reliable videos. Most of the misleading videos (72.2%) advocated complementary and alternative medicine as a primary treatment for RLS. Although the reliable videos had higher mDISCERN scores than the misleading videos, the overall quality of the reliable videos was low.
Conclusion
Many Korean videos regarding RLS on YouTube involve a risk of exposure to misinformation and are of unsatisfactory quality.

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Aytül COŞAR ERTEM, Uğur ERTEM
The European Research Journal.2023; 9(5): 992. CrossRef
The portrayal of hearing loss information in online Mandarin videos
Chandan H. Suresh, Kiara Leng, Nilesh J. Washnik, Satyabrata Parida
Journal of Otology.2023; 18(3): 152. CrossRef
YouTube as an information source for pulmonary rehabilitation in patients with COVID-19: A Cross-Sectional Study
Çağlar KARABAŞ, Yıldız Gonca DOĞRU
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Changes in Cerebral Gray and White Matter in Patients with Pantothenate Kinase-Associated Neurodegeneration: A Long-Term Magnetic Resonance Imaging Follow-Up Study: Pedro Roa-Sanchez, Pamela Bido, Jairo Oviedo, Hans-Jürgen Huppertz, Herwin Speckter, Peter Stoeter; J Mov Disord. 2021;14(2):148-152. Published online May 26, 2021; DOI: https://doi.org/10.14802/jmd.20102

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Abstract PDF Supplementary Material

Objective
To determine the volume changes in gray and white matter during a long-term follow-up in patients suffering from pantothenate kinase-associated neurodegeneration (PKAN).
Methods
Magnetic resonance imaging was repeated in 13 patients and 14 age-matched controls after a mean interval of more than 7 years. T1-weighted sequences were evaluated by fully automated atlas-based volumetry, compared between groups and correlated with disease progression.
Results
The patients did not show generalized cerebral atrophy but did show a significantly faster volume reduction in the globus pallidus during follow-up (between -0.96% and -1.02% per year, p < 0.05 adjusted for false discovery rate) than controls, which was significantly related to the progression in their dystonia scores (p = 0.032).
Conclusion
The volume loss in the globus pallidus over time—together with the accumulation of iron known as the “tiger’s eye”—supports the pathophysiologic concept of this nucleus as a center of inhibition and its severe malfunction in PKAN.

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Pantothenate Kinase Activation Restores Brain Coenzyme A in a Mouse Model of Pantothenate Kinase-Associated Neurodegeneration
Chitra Subramanian, Matthew W. Frank, Rajaa Sukhun, Christopher E. Henry, Anna Wade, Mallory E. Harden, Satish Rao, Rajendra Tangallapally, Mi-Kyung Yun, Stephen W. White, Richard E. Lee, Uma Sinha, Charles O. Rock, Suzanne Jackowski
Journal of Pharmacology and Experimental Therapeutics.2024; 388(1): 171. CrossRef
Cerebral and cerebellar white matter tract alterations in patients with Pantothenate Kinase-Associated Neurodegeneration (PKAN)
Diones Rivera, Pedro Roa-Sanchez, Pamela Bidó, Herwin Speckter, Jairo Oviedo, Peter Stoeter
Parkinsonism & Related Disorders.2022; 98: 1. CrossRef
Long-Term Neuroradiological and Clinical Evaluation of NBIA Patients Treated with a Deferiprone Based Iron-Chelation Therapy
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Case Reports

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

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Abstract PDF Supplementary 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.

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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

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Abstract PDF Supplementary 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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