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Volume 14(3); September 2021
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Review Articles
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Management of Parkinson’s Disease in the COVID-19 Pandemic and Future Perspectives in the Era of Vaccination
Yue Hui Lau, Keng Ming Lau, Norlinah Mohamed Ibrahim
J Mov Disord. 2021;14(3):177-183.   Published online July 29, 2021
DOI: https://doi.org/10.14802/jmd.21034
  • 7,189 View
  • 158 Download
  • 11 Web of Science
  • 7 Crossref
AbstractAbstract PDF
The current coronavirus disease 2019 (COVID-19) pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARSCoV- 2) has led to a serious global health crisis. Increasing evidence suggests that elderly individuals with underlying chronic diseases, including Parkinson’s disease (PD), are particularly vulnerable to this infection. Changes in the routine care of PD patients should be implemented carefully without affecting the quality provided. The utilization of telemedicine for clinical consultation, assessment and rehabilitation has also been widely recommended. Therefore, the aim of this review is to provide recommendations in the management of PD during the pandemic as well as in the early phase of vaccination programs to highlight the potential sequelae and future perspectives of vaccination and further research in PD. Even though a year has passed since COVID- 19 emerged, most of us are still facing great challenges in providing a continuum of care to patients with chronic neurological disorders. However, we should regard this health crisis as an opportunity to change our routine approach in managing PD patients and learn more about the impact of SARS-CoV-2. Hopefully, PD patients can be vaccinated promptly, and more detailed research related to PD in COVID-19 can still be carried out.

Citations

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  • Increasing exercise with a mobile app in people with Parkinson’s disease: a pilot study
    Jong Hyeon Ahn, Dongrul Shin, Dongyeong Lee, Hye Young Kim, Jinyoung Youn, Jin Whan Cho, Suzanne Kuys
    Brain Impairment.2024;[Epub]     CrossRef
  • Potential convergence of olfactory dysfunction in Parkinson’s disease and COVID-19: The role of neuroinflammation
    Hui Li, Junliang Qian, Youcui Wang, Juan Wang, Xiaoqing Mi, Le Qu, Ning Song, Junxia Xie
    Ageing Research Reviews.2024; 97: 102288.     CrossRef
  • A large survey on COVID-19 vaccination in patients with Parkinson’s disease and healthy population
    Chao Han, Zhen Zhen Zhao, Piu Chan, Fang Li, Chun Ling Chi, Xin Zhang, Yan Zhao, Jing Chen, Jing Hong Ma
    Vaccine.2023; 41(43): 6483.     CrossRef
  • Role of SARS-CoV-2 in Modifying Neurodegenerative Processes in Parkinson’s Disease: A Narrative Review
    Jeremy M. Morowitz, Kaylyn B. Pogson, Daniel A. Roque, Frank C. Church
    Brain Sciences.2022; 12(5): 536.     CrossRef
  • Deep Learning Paradigm for Cardiovascular Disease/Stroke Risk Stratification in Parkinson’s Disease Affected by COVID-19: A Narrative Review
    Jasjit S. Suri, Mahesh A. Maindarkar, Sudip Paul, Puneet Ahluwalia, Mrinalini Bhagawati, Luca Saba, Gavino Faa, Sanjay Saxena, Inder M. Singh, Paramjit S. Chadha, Monika Turk, Amer Johri, Narendra N. Khanna, Klaudija Viskovic, Sofia Mavrogeni, John R. Lai
    Diagnostics.2022; 12(7): 1543.     CrossRef
  • Movement disorders in COVID-19 times: impact on care in movement disorders and Parkinson disease
    Sabrina Poonja, K. Ray Chaudhuri, Janis M. Miyasaki
    Current Opinion in Neurology.2022; 35(4): 494.     CrossRef
  • Viruses, parkinsonism and Parkinson’s disease: the past, present and future
    Valentina Leta, Daniele Urso, Lucia Batzu, Yue Hui Lau, Donna Mathew, Iro Boura, Vanessa Raeder, Cristian Falup-Pecurariu, Daniel van Wamelen, K. Ray Chaudhuri
    Journal of Neural Transmission.2022; 129(9): 1119.     CrossRef
Article image
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
  • 7,452 View
  • 221 Download
  • 14 Web of Science
  • 14 Crossref
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.

Citations

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  • Assessment of the relationship between the dopaminergic pathway and severe acute respiratory syndrome coronavirus 2 infection, with related neuropathological features, and potential therapeutic approaches in COVID‐19 infection
    Yousef Rasmi, Ameneh Shokati, Shima Hatamkhani, Yeganeh Farnamian, Roya Naderi, Ladan Jalali
    Reviews in Medical Virology.2024;[Epub]     CrossRef
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    Narmadhaa Sivagurunathan, Latchoumycandane Calivarathan
    CNS & Neurological Disorders - Drug Targets.2024; 23(4): 431.     CrossRef
  • Deciphering the molecular pathways underlying dopaminergic neuronal damage in Parkinson's disease associated with SARS-CoV-2 infection
    Qiuhan Xu, Sisi Jiang, Ruiqing Kang, Yiling Wang, Baorong Zhang, Jun Tian
    Computers in Biology and Medicine.2024; 171: 108200.     CrossRef
  • Headache and Dizziness as Prevailing Clinical Manifestations in Parkinson's Patients Following COVID-19
    Mohammad Haddadi, Yasamin Meamarzadegan, Ali Vasheghani Farahani, Alireza Etrati Kooshali, Sheida Sarrafzadeh, Parsa Ghafari, Parsa Nobaveh, Omid Salahi Ardekani, Zahra Taghiabadi, Saeed Motlaghzadeh, Sepehr Damghani, Arash Letafati
    Archives of Neuroscience.2024;[Epub]     CrossRef
  • Axial Improvement after Casirivimab/Imdevimab Treatment for COVID-19 in Parkinson’s Disease
    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.2023; 50(5): 777.     CrossRef
  • 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
  • Does the SARS-CoV-2 Spike Receptor-Binding Domain Hamper the Amyloid Transformation of Alpha-Synuclein after All?
    Yulia Stroylova, Anastasiia Konstantinova, Victor Stroylov, Ivan Katrukha, Fedor Rozov, Vladimir Muronetz
    Biomedicines.2023; 11(2): 498.     CrossRef
  • Sex and age affect acute and persisting COVID-19 illness
    Anna Vasilevskaya, Asma Mushtaque, Michelle Y. Tsang, Batoul Alwazan, Margaret Herridge, Angela M. Cheung, Maria Carmela Tartaglia
    Scientific Reports.2023;[Epub]     CrossRef
  • Vulnerability of Parkinson’s Patients to COVID-19 and Its Consequences and Effects on Them: A Systematic Review
    Sorayya Rezayi, Meysam Rahmani Katigari, Leila Shahmoradi, Mehrbakhsh Nilashi, Hélio Teive
    Parkinson's Disease.2023; 2023: 1.     CrossRef
  • COVID-19 and neurological sequelae: Vitamin D as a possible neuroprotective and/or neuroreparative agent
    Sebastián García Menéndez, Virna Margarita Martín Giménez, Michael F. Holick, Francisco J. Barrantes, Walter Manucha
    Life Sciences.2022; 297: 120464.     CrossRef
  • SARS-CoV-2 Proteins Interact with Alpha Synuclein and Induce Lewy Body-like Pathology In Vitro
    Zhengcun Wu, Xiuao Zhang, Zhangqiong Huang, Kaili Ma
    International Journal of Molecular Sciences.2022; 23(6): 3394.     CrossRef
  • COVID-19 and Parkinsonism: A Critical Appraisal
    Francesco Cavallieri, Valentina Fioravanti, Francesco Bove, Eleonora Del Prete, Sara Meoni, Sara Grisanti, Marialuisa Zedde, Rosario Pascarella, Elena Moro, Franco Valzania
    Biomolecules.2022; 12(7): 970.     CrossRef
  • SARS-CoV-2 mediated neurological disorders in COVID-19: Measuring the pathophysiology and immune response
    Pi-Ching Hsu, Md. Shahed-Al-Mahmud
    Life Sciences.2022; 308: 120981.     CrossRef
  • COVID-19 і хвороба Паркінсона
    I.M. Karaban, T.V. Hasiuk, N.V. Karasevych
    INTERNATIONAL NEUROLOGICAL JOURNAL.2022; 18(3): 46.     CrossRef
Article image
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
  • 7,932 View
  • 231 Download
  • 10 Web of Science
  • 11 Crossref
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.

Citations

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  • Locomotor Behavior and Memory Dysfunction Induced by 3-Nitropropionic Acid in Adult Zebrafish: Modulation of Dopaminergic Signaling
    Melissa Talita Wiprich, Rafaela da Rosa Vasques, Darlan Gusso, Gabriel Rübensam, Luiza Wilges Kist, Mauricio Reis Bogo, Carla Denise Bonan
    Molecular Neurobiology.2024; 61(2): 609.     CrossRef
  • Effects of Intracerebral Aminophylline Dosing on Catalepsy and Gait in an Animal Model of Parkinson’s Disease
    Érica de Moraes Santos Corrêa, Gustavo Christofoletti, Albert Schiaveto de Souza
    International Journal of Molecular Sciences.2024; 25(10): 5191.     CrossRef
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    Kaitlyn Dickinson, Elliott J. Yee, Isaac Vigil, Richard D. Schulick, Yuwen Zhu
    Cancer Immunology, Immunotherapy.2024;[Epub]     CrossRef
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    Yuemei Wang, Yuanbing Zhu, Junmeng Wang, Longcong Dong, Shuqing Liu, Sihui Li, Qiaofeng Wu
    Frontiers in Pharmacology.2023;[Epub]     CrossRef
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    Mercedes Fernandez, Manuela Nigro, Alessia Travagli, Silvia Pasquini, Fabrizio Vincenzi, Katia Varani, Pier Andrea Borea, Stefania Merighi, Stefania Gessi
    Pharmaceutics.2023; 15(10): 2441.     CrossRef
  • Restoring autophagic function: a case for type 2 diabetes mellitus drug repurposing in Parkinson’s disease
    Marco Greco, Anas Munir, Debora Musarò, Chiara Coppola, Michele Maffia
    Frontiers in Neuroscience.2023;[Epub]     CrossRef
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    Soo-Min Jung, Lee Peyton, Hesham Essa, Doo-Sup Choi
    Neurobiology of Pain.2022; 11: 100087.     CrossRef
  • A2A Adenosine Receptor Antagonists: Are Triazolotriazine and Purine Scaffolds Interchangeable?
    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
    Progress in Neuro-Psychopharmacology and Biological Psychiatry.2022; 119: 110602.     CrossRef
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    Giselle Prunell, Silvia Olivera-Bravo
    Biomolecules.2022; 12(12): 1745.     CrossRef
Viewpoint
Does Restless Legs Syndrome Have a Different Pathomechanism in Premotor and Motor Parkinson’s Disease?
Stefano Calzetti, Anna Negrotti, Vladimiro Pietrini
J Mov Disord. 2021;14(3):204-207.   Published online September 8, 2021
DOI: https://doi.org/10.14802/jmd.20160
  • 3,672 View
  • 80 Download
  • 1 Web of Science
  • 1 Crossref
PDF

Citations

Citations to this article as recorded by  
  • Widening the Spectrum of Risk Factors, Comorbidities, and Prodromal Features of Parkinson Disease
    Anette Schrag, Jens Bohlken, Lotte Dammertz, Stefan Teipel, Wiebke Hermann, Manas K. Akmatov, Jörg Bätzing, Jakob Holstiege
    JAMA Neurology.2023; 80(2): 161.     CrossRef
Original Articles
Article image
The Four Square Step Test for Assessing Cognitively Demanding Dynamic Balance in Parkinson’s Disease Patients
Jinhee Kim, Ilsoo Kim, Ye Eun Kim, Seong-Beom Koh
J Mov Disord. 2021;14(3):208-213.   Published online May 26, 2021
DOI: https://doi.org/10.14802/jmd.20146
  • 5,569 View
  • 180 Download
  • 6 Web of Science
  • 5 Crossref
AbstractAbstract PDFSupplementary Material
Objective
The Four Square Step Test (FSST) is a tool that assesses dynamic balance during obstacle step-over. To date, few studies have used the FSST to measure balance in patients with Parkinson’s disease (PD). This study aimed to verify that patients with PD, even at the de novo early stage, take more time to perform the FSST and identify which factors, cognitive status or cardinal motor symptoms, are related most to FSST scores.
Methods
Thirty-five newly diagnosed drug-naïve patients with PD and 17 controls completed the FSST. The Unified Parkinson’s Disease Rating Scale (UPDRS), Hoehn and Yahr (H&Y) stage, spatiotemporal gait parameters, and neuropsychological test battery were also assessed in the PD group.
Results
Mean FSST performance time was 8.20 ± 1.61 seconds in patients with PD, which was significantly more than the control group (7.13 ± 1.10 seconds, p = 0.018). UPDRS part III total score and H&Y stage were not significantly associated with FSST, but among the UPDRS subscores, only the postural instability/gait disturbance subscore showed a significant association. Regarding the association between FSST and cognition, the Trail Making Test-B and the Color Word Stroop Test showed strongly inverse correlations with FSST (rho = -0.598 and -0.590, respectively). With respect to gait parameters, double support time was significantly associated with FSST score (rho = 0.342, p = 0.044); however, other parameters, including velocity and step length, were not associated with the FSST.
Conclusion
The FSST can be used in the clinic to assess dynamic balance with cognitive demands even in the early stages of PD.

Citations

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    S. Dhanusia, S. Santhana Lakshmi, Ajith Kumar, R. Prabhu, Vignesh Srinivasan, Prathap Suganthirababu, Priyadharshini Kumar, A. Kumaresan, Surya Vishnuram, Jagatheesan Alagesan, Rajkumar Krishnan Vasanthi
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    Michelle M. Lusardi
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    Atalie C. Thompson, Eileen Johnson, Michael E. Miller, Jeff D. Williamson, Anne B. Newman, Steve Cummings, Peggy Cawthon, Stephen B. Kritchevsky, Eric R. Anson
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Article image
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
  • 24,675 View
  • 338 Download
  • 10 Web of Science
  • 11 Crossref
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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    Roongroj Bhidayasiri, Ornanong Udomsirithamrong, Adrian de Leon, Walter Maetzler, Andrea Pilotto
    Parkinsonism & Related Disorders.2024; : 107052.     CrossRef
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    Hanjiang Luo, Xiaohan Yu, Pengjie Li, Junya Hu, Wei Li, Xin Li, Min Chen, Shun Yu
    Neuroscience.2024; 557: 1.     CrossRef
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    Matthew J. Farrer
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Brief communications
Article image
Investigation of Nocturnal Hypokinesia and Health-Related Quality of Life in Parkinsonian Patients with the Korean Version of the Nocturnal Hypokinesia Questionnaire
Ji-Hyun Choi, Jee-Young Lee, Chaewon Shin, Dallah Yoo, Jin Hee Im, Kyung Ah Woo, Han-Joon Kim, Tae-Beom Ahn, Jong-Min Kim, Beomseok Jeon
J Mov Disord. 2021;14(3):221-225.   Published online May 26, 2021
DOI: https://doi.org/10.14802/jmd.20172
  • 4,812 View
  • 75 Download
  • 1 Web of Science
  • 1 Crossref
AbstractAbstract PDFSupplementary Material
Objective
To assess nocturnal hypokinesia using the Korean version of the Nocturnal Hypokinesia Questionnaire (NHQ-K) in Parkinson’s disease (PD) patients across disease stages.
Methods
We developed the NHQ-K and performed questionnaire-based interviews with 108 PD patients from three referral hospitals. Clinical associations of nocturnal hypokinesia and its impact on health-related quality of life (HRQoL) were also analyzed.
Results
The NHQ-K showed acceptable internal consistency (0.83) and interrater reliability (0.95). Nocturnal hypokinesia significantly affected HRQoL in PD patients at both the early and advanced stages (adjusted p < 0.001). Increased severity of nocturnal hypokinesia was associated with dyskinesias, off-period disability, apathy, and anxious mood in PD patients (adjusted p < 0.01) after controlling for disease severity and medication dose.
Conclusion
The NHQ-K is useful for screening nocturnal hypokinesia in PD patients. Given the high impact of nocturnal hypokinesia on HRQoL, comprehensive management of nocturnal disability is needed for PD patients.

Citations

Citations to this article as recorded by  
  • Technological evaluation of strategies to get out of bed by people with Parkinson's disease: Insights from multisite wearable sensors
    Jirada Sringean, Chusak Thanawattano, Roongroj Bhidayasiri
    Frontiers in Medical Technology.2022;[Epub]     CrossRef
Article image
Phonatory Characteristics of Male Patients with Classic Essential Tremor
Preetie Shetty Akkunje, Belur Keshavaprasad Yamini, Ravi Yadav, Nagarajarao Shivashankar, Palash Kumar Malo, Kandavel Thennarasu, Shantala Hegde, Pramod Kumar Pal
J Mov Disord. 2021;14(3):226-230.   Published online August 18, 2021
DOI: https://doi.org/10.14802/jmd.21010
  • 4,361 View
  • 101 Download
  • 1 Crossref
AbstractAbstract PDFSupplementary Material
Objective
Voice tremor (VT) is one of the characteristics of essential tremor (ET). This study was designed to describe the group and phonatory characteristics of classic ET patients with VT.
Methods
This retrospective case-control study compared classic ET patients with age and sex-matched controls. The ET population was subgrouped based on auditory perceptual voice analysis. Electroglottography and acoustic voice samples obtained from both groups were analyzed for contact quotient (CQ) and multidimensional voice program parameters, i.e., fundamental frequency (F0), perturbation, noise, and tremor parameters.
Results
The CQ, F0, perturbation, noise, and tremor characteristics significantly increased from the moderate VT group to the severe VT group.
Conclusion
The CQ, F0, and noise characteristics reflected the vocal folds’ functionality. The perturbation and tremor parameters variation were reasoned considering the tremor-related changes occurring in the laryngeal, vocal tract, and expiratory muscles in patients with ET. Thus, phonatory analysis may help in monitoring the progression of ET.

Citations

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  • Voice Analysis in Patients with Essential Tremor
    Hakan Silek, Muzeyyen Dogan
    Journal of Voice.2023;[Epub]     CrossRef
Article image
Clinical and Imaging Profile of Patients with Joubert Syndrome
Bharath Kumar Surisetti, Vikram Venkappayya Holla, Shweta Prasad, Koti Neeraja, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal
J Mov Disord. 2021;14(3):231-235.   Published online September 16, 2021
DOI: https://doi.org/10.14802/jmd.21066
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AbstractAbstract PDFSupplementary Material
Objective
Joubert syndrome (JS) is a rare syndrome characterized by ataxia and the molar tooth sign (MTS) on imaging. The present study aims to explore the clinical and radiological features in a cohort of patients with JS.
Methods
This was a retrospective chart review of patients with JS evaluated by movement disorder specialists.
Results
Nine patients were included in the study. All patients had facial dysmorphism and ocular abnormalities, and 4 patients had dystonia. Ocular tilt reaction and alternate skew deviation (66%) were the most common ocular abnormalities. Horizontally aligned superior cerebellar peduncles were observed in all four patients with diffusion tensor imaging, with a lack of decussation in three. Exome sequencing performed in four patients revealed novel variants in the MKS1, CPLANE1, and PIBF1 genes.
Conclusion
Facial dysmorphism, ocular abnormalities and classical imaging findings were observed in all patients with JS. Apart from ataxia, dystonia and myoclonus are other movement disorders observed in JS.

Citations

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Case Report
Article image
Focused Vibrotactile Stimulation with Cueing Effect on Freezing of Gait in Parkinson’s Disease: Two Case Reports
Xiu Sheng Tan, Floyd Pierres, Alex Dallman-Porter, William Hardie-Brown, Kyum-Yil Kwon
J Mov Disord. 2021;14(3):236-238.   Published online September 8, 2021
DOI: https://doi.org/10.14802/jmd.21076
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AbstractAbstract PDFSupplementary Material
Freezing of gait (FOG) is a common occurrence in patients with Parkinson’s disease (PD) that leads to significant limitations in mobility and increases risk of falls. Focused vibrotactile stimulation and cueing are two methods used to alleviate motor symptoms, including FOG, in patients with PD. While effective on their own, the effect of combining both focused vibrotactile stimulation and cueing has yet to be investigated. Two patients, both with a history of PD, suffered from frequent FOG episodes that failed to respond adequately to medication. A novel vibrotactile stimulation device that delivered rhythmic kinesthetic stimuli onto the sternum successfully reduced FOG episodes in both patients and drastically improved their mobility as measured by the Timed Up and Go test. We found that a combination of focused vibrotactile stimulation and cueing was effective in reducing FOG episodes in two patients with PD. Further well-designed prospective studies are needed to confirm our observations.

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J Mov Disord. 2021;14(3):239-241.   Published online March 15, 2021
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PDFSupplementary Material

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J Mov Disord. 2021;14(3):245-247.   Published online March 15, 2021
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