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Volume 14(2); May 2021
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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
  • 5,933 View
  • 366 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
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
  • 4,720 View
  • 188 Download
  • 1 Citations
AbstractAbstract 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

Citations to this article as recorded by  
  • Dementia Prevention in Clinical Practice
    Kellyann Niotis, Kiarra Akiyoshi, Caroline Carlton, Richard Isaacson
    Seminars in Neurology.2022;[Epub]     CrossRef
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
  • 3,257 View
  • 143 Download
  • 3 Citations
PDF

Citations

Citations to this article as recorded by  
  • 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
    Spinal Cord Series and Cases.2022;[Epub]     CrossRef
  • Commentary: Atypical, Early‐Onset Dystonia‐Parkinsonism with Oculogyric Crises and Anterior Horn Cell Disorder due to a Novel DJ ‐1 Mutation
    Stephen G. Reich, Karan Desai, Shruti Agrawal, Priyanka Walzade, Sangeeta Ravat, Pankaj A. Agarwal, Alberto J. Espay
    Movement Disorders Clinical Practice.2021;[Epub]     CrossRef
  • Polyminimyoclonus in Hirayama disease
    Dylan Meng, Kimia Ghavami, Tychicus Chen
    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
  • 3,789 View
  • 130 Download
  • 6 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
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
  • 3,155 View
  • 75 Download
AbstractAbstract PDFSupplementary 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
  • 3,735 View
  • 105 Download
  • 3 Citations
AbstractAbstract PDFSupplementary 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.

Citations

Citations to this article as recorded by  
  • 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
    Journal of Clinical Medicine.2022; 11(13): 3825.     CrossRef
  • Lycium barbarum polysaccharide improves dopamine metabolism and symptoms in an MPTP-induced model of Parkinson’s disease
    Jiangbo Song, Lian Liu, Zhiquan Li, Ting Mao, Jianfei Zhang, Lei Zhou, Xin Chen, Yunzhu Shang, Tao Sun, Yuxin Luo, Yu Jiang, Duan Tan, Xiaoling Tong, Fangyin Dai
    BMC Medicine.2022;[Epub]     CrossRef
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
  • 3,202 View
  • 74 Download
  • 1 Citations
AbstractAbstract PDFSupplementary 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.

Citations

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  • YouTube as an information source for pulmonary rehabilitation in patients with COVID-19: A Cross-Sectional Study
    Çağlar KARABAŞ, Yıldız Gonca DOĞRU
    Genel Tıp Dergisi.2022; 32(3): 259.     CrossRef
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
  • 2,495 View
  • 62 Download
  • 2 Citations
AbstractAbstract PDFSupplementary 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.

Citations

Citations to this article as recorded by  
  • 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
    Nicola Romano, Giammarco Baiardi, Valeria Maria Pinto, Sabrina Quintino, Barbara Gianesin, Riccardo Sasso, Andrea Diociasi, Francesca Mattioli, Roberta Marchese, Giovanni Abbruzzese, Antonio Castaldi, Gian Luca Forni
    Journal of Clinical Medicine.2022; 11(15): 4524.     CrossRef
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
  • 4,891 View
  • 159 Download
  • 6 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

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  • 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
  • Post‐infectious cerebellar ataxia following COVID ‐19 in a patient with epilepsy
    Sidhartha Chattopadhyay, Judhajit Sengupta, Sagar Basu
    Clinical and Experimental Neuroimmunology.2022; 13(4): 323.     CrossRef
  • Persistent neurological manifestations in long COVID-19 syndrome: A systematic review and meta-analysis
    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
  • Anti-neuronal antibodies against brainstem antigens are associated with COVID-19
    Guglielmo Lucchese, Antje Vogelgesang, Fabian Boesl, Dina Raafat, Silva Holtfreter, Barbara M. Bröker, Angela Stufano, Robert Fleischmann, Harald Prüss, Christiana Franke, Agnes Flöel
    eBioMedicine.2022; 83: 104211.     CrossRef
  • Post–COVID ‐19 Myoclonus–Ataxia Syndrome Responsive to Intravenous Immunoglobulins
    Massimiliano Godani, Alessandro Beronio, Giuseppe Lanza
    Movement Disorders Clinical Practice.2022;[Epub]     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
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
  • 3,771 View
  • 120 Download
  • 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.

Citations

Citations to this article as recorded by  
  • 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
  • Movement disorders and neuropathies: overlaps and mimics in clinical practice
    Francesco Gentile, Alessandro Bertini, Alberto Priori, Tommaso Bocci
    Journal of Neurology.2022; 269(9): 4646.     CrossRef
  • Transgenic Mice for the Translational Study of Neuropathic Pain and Dystonia
    Damiana Scuteri, Kengo Hamamura, Chizuko Watanabe, Paolo Tonin, Giacinto Bagetta, Maria Tiziana Corasaniti
    International Journal of Molecular Sciences.2022; 23(15): 8580.     CrossRef
  • An overview of the pharmacotherapeutics for dystonia: advances over the past decade
    O. Abu-hadid, J. Jimenez-Shahed
    Expert Opinion on Pharmacotherapy.2022;[Epub]     CrossRef
  • Exploitation of Thermal Sensitivity and Hyperalgesia in a Mouse Model of Dystonia
    Damiana Scuteri, Laura Rombolà, Silvia Natoli, Antonio Pisani, Paola Bonsi, Kengo Hamamura, Giacinto Bagetta, Paolo Tonin, Maria Tiziana Corasaniti
    Life.2021; 11(9): 985.     CrossRef
Letters to the editor
A Case of Delayed Oculo-Palato-Brachial Tremor after Pontine Infarction
Ho-Sung Ryu, Minsub Cho, Daeun Shin, Yang-Ha Hwang
J Mov Disord. 2021;14(2):161-163.   Published online September 21, 2020
DOI: https://doi.org/10.14802/jmd.20077
  • 4,248 View
  • 82 Download
PDFSupplementary Material
Levodopa-Associated Barking Vocalizations
Shweta Prasad, Pramod Kumar Pal
J Mov Disord. 2021;14(2):164-165.   Published online October 31, 2020
DOI: https://doi.org/10.14802/jmd.20086
  • 2,790 View
  • 59 Download
PDFSupplementary Material
Peak-Dose Ballism Associated with Declining Implantable Pulse Generator Battery Life in Deep Brain Stimulation for Parkinson’s Disease
Denzel Chong Jen-Rei, Lim Thien Thien, Lee Hock Keong, Hoe Wei Leng, Onanong Phokaewvarangkul, Roongroj Bhidayasiri
J Mov Disord. 2021;14(2):166-169.   Published online December 7, 2020
DOI: https://doi.org/10.14802/jmd.20078
  • 2,995 View
  • 76 Download
PDFSupplementary Material
TNR Gene Mutation in Familial Parkinson’s Disease: Possible Implications for Essential Tremor
Michel Sáenz-Farret, Renato Puppi Munhoz, Alfonso Fasano, Carlos Zúñiga-Ramírez
J Mov Disord. 2021;14(2):170-172.   Published online December 7, 2020
DOI: https://doi.org/10.14802/jmd.20057
  • 3,263 View
  • 76 Download
  • 2 Citations
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Citations

Citations to this article as recorded by  
  • Whole-Genome Study of a Multigenerational Family with Essential Tremor
    Ming Zhang, Mohammad Rohani, Mahdi Montazer Haghighi, Christine Sato, Ekaterina Rogaeva, Alfonso Fasano
    Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.2022; 49(3): 381.     CrossRef
  • Predicting Parkinson disease related genes based on PyFeat and gradient boosted decision tree
    Marwa Helmy, Eman Eldaydamony, Nagham Mekky, Mohammed Elmogy, Hassan Soliman
    Scientific Reports.2022;[Epub]     CrossRef
Encephalopathy and Complex Hyperkinesia in a Patient with Severe Acute Respiratory Syndrome Coronavirus-2 Infection
Wenyang Li, Elif Pinar Coskun, Rolando Berger, John Thomas Slevin, Luther Creed Pettigrew
J Mov Disord. 2021;14(2):173-175.   Published online January 12, 2021
DOI: https://doi.org/10.14802/jmd.20084
  • 3,298 View
  • 55 Download
PDFSupplementary Material

JMD : Journal of Movement Disorders