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Volume 14(1); January 2021
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Review Articles
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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
  • 9,220 View
  • 410 Download
  • 15 Web of Science
  • 15 Crossref
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.

Citations

Citations to this article as recorded by  
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  • Dysregulation of stress granule dynamics by DCTN1 deficiency exacerbates TDP-43 pathology in Drosophila models of ALS/FTD
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  • Deficiency of Perry syndrome-associated p150Glued in midbrain dopaminergic neurons leads to progressive neurodegeneration and endoplasmic reticulum abnormalities
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    Yi-Min Sun, Xin-Yue Zhou, Xiao-Niu Liang, Jin-Ran Lin, Yi-Dan Xu, Chen Chen, Si-Di Wei, Qi-Si Chen, Feng-Tao Liu, Jue Zhao, Yi-Lin Tang, Bo Shen, Lin-Hua Gan, Boxun Lu, Zheng-Tong Ding, Yu An, Jian-Jun Wu, Jian Wang
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  • Perry syndrome: Novel DCTN1 mutation in a large kindred and first observation of prodromal disease
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  • Perry Disease: Expanding the Genetic Basis
    Jarosław Dulski, Shunsuke Koga, Paweł P. Liberski, Emilia J. Sitek, Ankur A. Butala, Jarosław Sławek, Dennis W. Dickson, Zbigniew K. Wszolek
    Movement Disorders Clinical Practice.2023; 10(7): 1136.     CrossRef
  • Monogenic Parkinson’s Disease: Genotype, Phenotype, Pathophysiology, and Genetic Testing
    Fangzhi Jia, Avi Fellner, Kishore Raj Kumar
    Genes.2022; 13(3): 471.     CrossRef
  • Perry disease in an Argentine family due to the DCTN1 p.G67D variant
    Emanuel Silva, Tatiana Itzcovich, Matías Niikado, Alejandro Caride, Elmer Fernández, Juan Carlos Vázquez, Leonardo Romorini, Mariela Marazita, Gustavo Sevlever, Horacio Martinetto, Ezequiel I. Surace
    Parkinsonism & Related Disorders.2022; 97: 63.     CrossRef
  • 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
    Neuroscience Letters.2021; 764: 136234.     CrossRef
Article image
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
  • 24,444 View
  • 789 Download
  • 29 Web of Science
  • 35 Crossref
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.

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Viewpoint
Impact and Challenges of the COVID-19 Pandemic on Patients Requiring Botulinum Toxin A Treatment
Azalea Tenerife Pajo, Adrian Isidoro Espiritu, Roland Dominic Go Jamora
J Mov Disord. 2021;14(1):29-33.   Published online January 12, 2021
DOI: https://doi.org/10.14802/jmd.20088
  • 9,103 View
  • 180 Download
  • 1 Web of Science
  • 1 Crossref
PDF

Citations

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    Yvonne Teuschl, Christian Bancher, Michael Brainin, Alexandra Dachenhausen, Karl Matz, Michaela M. Pinter
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Original Articles
Article image
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
  • 11,504 View
  • 231 Download
  • 16 Web of Science
  • 15 Crossref
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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Article image
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
  • 12,471 View
  • 324 Download
  • 30 Web of Science
  • 29 Crossref
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.

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    Jennifer S. Pigott, Megan Armstrong, Nathan Davies, Daniel Davis, Bastiaan R. Bloem, Stefan Lorenzl, Wassilios G. Meissner, Per Odin, Joaquim J. Ferreira, Richard Dodel, Anette Schrag
    Quality of Life Research.2024; 33(9): 2439.     CrossRef
  • Understanding what aspects of Parkinson’s disease matter most to patients and families
    Jennifer R. Mammen, Mirinda Tyo, Joyce Cadorette, Jamie L. Adams, Yuge Xiao, Diane Stephenson, Claire Bale
    Scientific Reports.2024;[Epub]     CrossRef
  • Validating the Parkinson’s Disease Questionnaire (PDQ-39) in the Arab context: a pilot study among Tunisian patients
    Chiraz Azaiez, Nasr Chalghaf, Imane Ghalmi, Ghada Boussayala, Mohamed Houcine Ibrahim Alajjouri, Nabil Muttlak El-Sadoon, Ali Ibrahim Abdul Wahid Al-Saadi, Mazin Inhaier Lami, Amel ben Chida Jammoussi, Choukri ben Ayed, Ismail Dergaa, Fairouz Azaiez
    Cogent Psychology.2024;[Epub]     CrossRef
  • The impact and value of the Parkinson’s nurse specialist to people with Parkinson’s and their care partners: a grounded theory qualitative study
    Kathryn Mcewan, Amanda Clarke, Sonia Dalkin, Annette Hand
    BMC Nursing.2024;[Epub]     CrossRef
  • A single-blind, randomised control trial on the effectiveness of a structured multi component training module for family caregiver of persons with Parkinson’s disease: A study protocol
    Nur Izyan Mohd Amin, Nor Azlin Mohd Nordin, Aniza Ismail, Sharmila Gopala Krishna Pillai, Hanif Farhan Mohd Rasdi, Antony Bayer
    PLOS ONE.2024; 19(11): e0309648.     CrossRef
  • Impact of advanced Parkinson’s disease on caregivers: an international real-world study
    Pablo Martinez-Martin, Matej Skorvanek, Tove Henriksen, Susanna Lindvall, Josefa Domingos, Ali Alobaidi, Prasanna L. Kandukuri, Vivek S. Chaudhari, Apeksha B. Patel, Juan Carlos Parra, James Pike, Angelo Antonini
    Journal of Neurology.2023; 270(4): 2162.     CrossRef
  • Perspectives of people with Parkinson's disease and family carers about disease management in community settings: A cross‐country qualitative study
    M. Victoria Navarta‐Sánchez, Ana Palmar‐Santos, Azucena Pedraz‐Marcos, Claire Reidy, Dia Soilemezi, Anita Haahr, Dorthe Sørensen, Helle Rønn Smidt, Line Kildal Bragstad, Ellen Gabrielsen Hjelle, Silje Bjørnsen Haavaag, Mari Carmen Portillo
    Journal of Clinical Nursing.2023; 32(15-16): 5201.     CrossRef
  • Barriers to home exercise for patients with Parkinson’s disease: a qualitative study
    Qiaohong Wang, Yiping Chen, Linbo Li, Chao Li, Li Li, Huili Cao, Hui Yang
    BMJ Open.2023; 13(2): e061932.     CrossRef
  • An update on pathogenesis and clinical scenario for Parkinson’s disease: diagnosis and treatment
    Hussaini Adam, Subash C. B. Gopinath, M. K. Md Arshad, Tijjani Adam, N. A. Parmin, Irzaman Husein, Uda Hashim
    3 Biotech.2023;[Epub]     CrossRef
  • Gastrointestinal Dysfunction in Parkinson’s Disease: Neuro-Gastroenterology Perspectives on a Multifaceted Problem
    Ai Huey Tan, Kee Huat Chuah, Yuan Ye Beh, Jie Ping Schee, Sanjiv Mahadeva, Shen-Yang Lim
    Journal of Movement Disorders.2023; 16(2): 138.     CrossRef
  • Abdominal pain in Parkinson’s disease
    A.A. Pilipovich, O.V. Vorobyova, S.A. Makarov
    Russian Journal of Pain.2023; 21(2): 12.     CrossRef
  • The multifaceted impact of structured training program on persons with Parkinson disease and their adult caregiver: A protocol for a systematic review
    Sharmila Gopala Krishna Pillai, Nor Azlin Mohd Nordin, Norlinah Mohamed Ibrahim
    Medicine.2023; 102(28): e33966.     CrossRef
  • Detecting Minor Symptoms of Parkinson’s Disease in the Wild Using Bi-LSTM with Attention Mechanism
    Vasileios Skaramagkas, Iro Boura, Cleanthi Spanaki, Emilia Michou, Georgios Karamanis, Zinovia Kefalopoulou, Manolis Tsiknakis
    Sensors.2023; 23(18): 7850.     CrossRef
  • Lower gastrointestinal dysfunction in patients with Parkinson’s disease
    A.A. Pilipovich, O.V. Vorob’eva, S.A. Makarov, A.V. Kuchuk
    Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova.2023; 123(12): 42.     CrossRef
  • 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
Article image
Impact of Upper Eyelid Surgery on Symptom Severity and Frequency in Benign Essential Blepharospasm
Hannah Mary Timlin, Kailun Jiang, Daniel George Ezra
J Mov Disord. 2021;14(1):53-59.   Published online January 12, 2021
DOI: https://doi.org/10.14802/jmd.20075
  • 5,891 View
  • 114 Download
  • 3 Web of Science
  • 2 Crossref
AbstractAbstract PDF
Objective
To assess the impact of periocular surgery, other than orbicularis stripping, on the severity and frequency of blepharospasm symptoms.
Methods
Consecutive patients with benign essential blepharospasm (BEB) who underwent eyelid/eyebrow surgery with the aim of improving symptoms were retrospectively reviewed over a 5-year period. Patients who had completed the Jankovic Rating Scale (JRS) and Blepharospasm Disability Index (BDI) pre- and at least 3 months postoperatively were included.
Results
Twenty-four patients were included. JRS scores significantly improved from 7.0 preoperatively to 4.1 postoperatively (p < 0.001), and BDI scores significantly improved from 18.4 preoperatively to 12.7 postoperatively (p < 0.001); the mean percentage improvements were 41% and 30%, respectively. Patients were followed for a median of 24 months postoperatively.
Conclusion
Periocular surgery significantly reduced BEB symptoms in the majority (83%) of patients by an average of 33% and may therefore be offered for suitable patients. An important minority (17%) of patients experienced symptom worsening.

Citations

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  • The long-term response to botulinum toxin injections in patients with blepharospasm undergoing upper eyelid surgery
    Assunta Trinchillo, Nunzia Cuomo, Francesco Habetswallner, Marcello Esposito
    Parkinsonism & Related Disorders.2024; 119: 105958.     CrossRef
  • Blepharospasm Secondary to Deep Brain Stimulation of the Subthalamic Nucleus in Parkinson Disease: Clinical Characteristics and Management Outcomes
    Michelle A. Ting, Alexandra I. Manta, Emma Samia-Aly, Michelle Lai, Emanuel R. de Carvalho, Philip Buttery, Daniel G. Ezra
    Journal of Neuro-Ophthalmology.2024; 44(4): 517.     CrossRef
Brief communication
Article image
Knowledge, Attitude, and Perceptions about Deep Brain Stimulation for Parkinson’s Disease: Observations from a Single Indian Center
Shweta Prasad, Amitabh Bhattacharya, Lulup Kumar Sahoo, Dhruv Batra, Nitish Kamble, Ravi Yadav, Dwarakanath Srinivas, Pramod Kumar Pal
J Mov Disord. 2021;14(1):60-64.   Published online September 21, 2020
DOI: https://doi.org/10.14802/jmd.20066
  • 6,243 View
  • 145 Download
  • 6 Web of Science
  • 5 Crossref
AbstractAbstract PDFSupplementary Material
Objective
Willingness to undergo deep brain stimulation (DBS) among patients with Parkinson’s disease (PD) and their overall satisfaction with the procedure is highly dependent upon expectations, which are based on the core concepts of knowledge, attitude and perceptions. The present study aims to evaluate these factors in patients and caregivers with PD from a single tertiary care hospital in India.
Methods
A structured questionnaire designed to assess the knowledge, attitude and perceptions about DBS in PD was administered to 400 patients with PD and their caregivers.
Results
A very small proportion of patients and caregivers were aware of DBS. Even those who claimed to be aware of DBS were inadequately informed and had incorrect knowledge, which led to wrong attitudes and perceptions.
Conclusion
There are very significant knowledge gaps and misconceptions regarding DBS among patients with PD and caregivers. Adequate and appropriate education is necessary to clarify these misconceptions to avoid the development of unrealistic expectations and poor satisfaction.

Citations

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  • Know DBS: patient perceptions and knowledge of deep brain stimulation in Parkinson’s disease
    Meagen Salinas, Umar Yazdani, Austin Oblack, Bradley McDaniels, Nida Ahmed, Bilal Haque, Nader Pouratian, Shilpa Chitnis
    Therapeutic Advances in Neurological Disorders.2024;[Epub]     CrossRef
  • Assessment of Knowledge and Perception Regarding Deep Brain Stimulation Among Medical Students in Saudi Arabia
    Sarah S Aldharman, Fadi A Munhish, Haila A Alabssi, Maryam A Alamer, Fay A Althunayyan, Majidah H Halawi, Shireen H Elfaham, Taghreed A Alsinani, Saud A Alnaaim
    Cureus.2023;[Epub]     CrossRef
  • Deep Brain Stimulation for Parkinson's Disease‐the Developing World's Perspective
    Khushboo Patel, Divya Kalikavil Puthanveedu, Asish Vijayaraghavan, Krishnakumar Kesavapisharady, Gangadhara Sarma, Sankara P. Sarma, Syam Krishnan
    Movement Disorders Clinical Practice.2023; 10(12): 1750.     CrossRef
  • How Parkinson’s patients in the USA perceive deep brain stimulation in the 21st century: Results of a nationwide survey
    Daniel Alfonso, Laura Y. Cabrera, Christos Sidiropoulos, Fei Wang, Harini Sarva
    Journal of Clinical Neuroscience.2022; 95: 20.     CrossRef
  • Caregiver Burden in Partners of Parkinsonian Patients with Deep Brain Stimulation
    Eileen Gülke, Monika Pötter-Nerger
    Brain Sciences.2022; 12(2): 238.     CrossRef
Case Reports
Article image
Sialidosis Type I without a Cherry Red Spot— Is There a Genetic Basis?
Koti Neeraja, Vikram Venkappayya Holla, Shweta Prasad, Bharath Kumar Surisetti, Kempaiah Rakesh, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal
J Mov Disord. 2021;14(1):65-69.   Published online October 31, 2020
DOI: https://doi.org/10.14802/jmd.20083
  • 5,598 View
  • 153 Download
  • 5 Web of Science
  • 4 Crossref
AbstractAbstract PDFSupplementary Material
Sialidosis is an inborn error of metabolism due to a defect in the NEU1 gene and manifests as two phenotypes: mild type I and severe type II. The cherry red spot (CRS) is a characteristic feature in both types of sialidosis; reports of sialidosis without a CRS are rare. We report two cases of genetically confirmed sialidosis type I with a typical presentation of progressive cortical myoclonus and ataxia but without the CRS. A previously reported homozygous pathogenic variant p.Arg294Cys was detected in the first case, and a novel homozygous pathogenic variant p.Arg305Pro was detected in the second case. Additionally, we reviewed the literature describing cases with similar mutations to find a genetic basis for the absence of a CRS. Milder mutation of both alleles detected in both patients may be the reason for the absence of a CRS.

Citations

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  • Unique clinical and electrophysiological features in the peripheral nerve system in patients with sialidosis – a case series study
    Sung-Ju Hsueh, Chin-Hsien Lin, Ni-Chung Lee, Tung-Ming Chang, Sung-Pin Fan, Wan-De Huang, Yea-Huey Lin, Li-Kai Tsai, Yin-Hsiu Chien, Ming-Jen Lee, Wuh-Liang Hwu, Hsueh Wen Hsueh, Chih-Chao Yang
    Orphanet Journal of Rare Diseases.2024;[Epub]     CrossRef
  • Genotype-phenotype correlation and founder effect analysis in southeast Chinese patients with sialidosis type I
    Yi-Chu Du, Ling-Han Ma, Quan-Fu Li, Yin Ma, Yi Dong, Zhi-Ying Wu
    Orphanet Journal of Rare Diseases.2024;[Epub]     CrossRef
  • Progressive myoclonic ataxia as an initial symptom of typical type I sialidosis with NEU1 mutation
    Jingjing Lin, Yun‐Lu Li, Bo‐Li Chen, Hui‐Zhen Su, Yi‐Heng Zeng, Rui‐Huang Zeng, Yu‐Duo Zhang, Ru‐Kai Chen, Nai‐Qing Cai, Yi‐Kun Chen, Ru‐Ying Yuan, Jun‐Yi Jiang, Xiang‐Ping Yao, Ning Wang, Wan‐Jin Chen, Kang Yang
    Annals of Clinical and Translational Neurology.2024; 11(11): 2998.     CrossRef
  • A fuzzy rule based machine intelligence model for cherry red spot disease detection of human eyes in IoMT
    Kalyan Kumar Jena, Sourav Kumar Bhoi, Debasis Mohapatra, Chittaranjan Mallick, Kshira Sagar Sahoo, Anand Nayyar
    Wireless Networks.2023; 29(1): 247.     CrossRef
Article image
New Nonsense Variant c.2983G>T; p.Glu995* in the CACNA1A Gene Causes Progressive Autosomal Dominant Ataxia
Yannic Saathoff, Saskia Biskup, Claudia Funke, Christian Roth
J Mov Disord. 2021;14(1):70-74.   Published online October 31, 2020
DOI: https://doi.org/10.14802/jmd.20082
  • 6,861 View
  • 110 Download
  • 2 Web of Science
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AbstractAbstract PDF
The genetic testing of hereditary ataxias includes screening for CAG-repeat expansions as well as pathogenic variants and nontranslated oligonucleotide expansion, which can cause spinocerebellar ataxia (SCA). Genotype-phenotype correlations of several SCA subtypes are difficult to establish, and the underlying mechanisms remain unclear. Here, we report a 58-year-old male patient who presented with severe generalized ataxia, horizontal gaze-evoked nystagmus, cognitive impairment and a positive family history of gait difficulties. Genetic panel diagnostics revealed a new nonsense pathogenic variant in the CACNA1A gene (c.2983G>T; p. Glu995*) that segregated with the phenotype in three clinically affected family members. This gene is related to SCA type 6 (SCA6), episodic ataxia type 2, familial hemiplegic migraine type 1, among others. When it is supported by the clinical findings and family history, additional DNA sequencing beyond fragment length analysis should be performed.

Citations

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  • The genotype–phenotype correlations of the CACNA1A-related neurodevelopmental disorders: a small case series and literature reviews
    Miriam Kessi, Baiyu Chen, Nan Pang, Lifen Yang, Jing Peng, Fang He, Fei Yin
    Frontiers in Molecular Neuroscience.2023;[Epub]     CrossRef
  • Next-Generation Sequencing Technologies and Neurogenetic Diseases
    Hui Sun, Xiao-Rong Shen, Zi-Bing Fang, Zong-Zhi Jiang, Xiao-Jing Wei, Zi-Yi Wang, Xue-Fan Yu
    Life.2021; 11(4): 361.     CrossRef
Article image
Involuntary Movements Following Administration of Hydroxychloroquine for COVID-19 Pneumonia
Emmaline Zantua Fernando, Jeryl Ritzi Tan Yu, Salvador Miclat Abad Santos, Roland Dominic Go Jamora
J Mov Disord. 2021;14(1):75-77.   Published online December 7, 2020
DOI: https://doi.org/10.14802/jmd.20091
  • 6,206 View
  • 124 Download
  • 4 Web of Science
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AbstractAbstract PDFSupplementary Material
Hydroxychloroquine (HCQ) has been used as an investigational drug for patients with moderate to severe coronavirus disease 2019 (COVID-19). There have been concerns of potential harms from side effects of the drug. We present a case of a 38-year-old male who was started on HCQ for COVID-19 pneumonia. He was referred for evaluation of myoclonus of all extremities, which resolved after discontinuation of HCQ. The involuntary movements were first reported after the initiation of HCQ, persisted despite improvement in inflammatory and radiologic parameters and eventually resolved after HCQ discontinuation. This supports a possible causality related to adverse drug reactions from HCQ that have not been commonly reported.

Citations

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  • Safety profile of COVID-19 drugs in a real clinical setting
    Mei Nee Chiu, Maitry Bhardwaj, Sangeeta Pilkhwal Sah
    European Journal of Clinical Pharmacology.2022; 78(5): 733.     CrossRef
  • Eventos adversos no sistema nervoso central potencialmente relacionados aos medicamentos utilizados na COVID-19: revisão de escopo
    Vinícius de Mello, Vinícius de Paula Pereira, João Paulo Vilela Rodrigues, Suelem Tavares da Silva Penteado, Leonardo Régis Leira Pereira, Fabiana Rossi Varallo
    Revista Panamericana de Salud Pública.2022; 46: 1.     CrossRef
Letters to the editor
Article image
COVID-19: Implications for Sudden Death in Parkinson’s Disease
Ana Claudia Fiorini, Marcelo Cunio Machado Fonseca, Carla Alessandra Scorza, Josef Finsterer, Antônio Márcio Rodrigues, Antônio-Carlos Guimarães de Almeida, Fulvio Alexandre Scorza
J Mov Disord. 2021;14(1):78-80.   Published online August 31, 2020
DOI: https://doi.org/10.14802/jmd.20065
  • 5,917 View
  • 137 Download
PDF
Article image
A Rare Case of Green Gelatinous Mass Formation on a Deep Brain Stimulation Implantable Pulse Generator
Peter C. Poortvliet, George Mellick, Terry Coyne, Peter Silburn
J Mov Disord. 2021;14(1):81-83.   Published online August 31, 2020
DOI: https://doi.org/10.14802/jmd.20050
  • 6,022 View
  • 67 Download
  • 1 Web of Science
  • 1 Crossref
PDF

Citations

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  • Do Antibiotic-Impregnated Envelopes Prevent Deep Brain Stimulation Implantable Pulse Generator Infections? A Prospective Cohort Study
    Michael Colditz, Tomas Heard, Peter Silburn, Terry Coyne
    Stereotactic and Functional Neurosurgery.2024; 102(3): 137.     CrossRef
Speech-Induced Task-Specific Cranio-Cervical Tardive Dystonia: An Unusual Phenomenology
Vikram Venkappayya Holla
J Mov Disord. 2021;14(1):84-85.   Published online September 21, 2020
DOI: https://doi.org/10.14802/jmd.20067
  • 5,051 View
  • 81 Download
  • 2 Web of Science
  • 1 Crossref
PDFSupplementary Material

Citations

Citations to this article as recorded by  
  • Treatment of tardive dystonia: A review
    Paola Testini, Stewart A. Factor
    Dystonia.2023;[Epub]     CrossRef
Article image
The Case of a Patient with Pantothenate Kinase-Associated Neurodegeneration Presenting with a Prolonged History of Stuttering Speech and a Misdiagnosis of Parkinson’s Disease
Prashant A Natteru, Juebin Huang
J Mov Disord. 2021;14(1):86-88.   Published online September 21, 2020
DOI: https://doi.org/10.14802/jmd.20062
  • 6,177 View
  • 104 Download
  • 3 Web of Science
  • 3 Crossref
PDFSupplementary Material

Citations

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  • Perspective on investigation of neurodegenerative diseases with neurorobotics approaches
    Silvia Tolu, Beck Strohmer, Omar Zahra
    Neuromorphic Computing and Engineering .2023; 3(1): 013001.     CrossRef
  • Pantothenate Kinase-Associated Neurodegeneration (PKAN) With Concomitant Blepharospasm: Unveiling a Clinical Enigma
    Venkat Reddy, Keyur Saboo, Kavyanjali Reddy, Sunil Kumar, Sourya Acharya
    Cureus.2023;[Epub]     CrossRef
  • Enlarged Area of Mesencephalic Iron Deposits in Adults Who Stutter
    Jan Liman, Alexander Wolff von Gudenberg, Mathias Baehr, Walter Paulus, Nicole E. Neef, Martin Sommer
    Frontiers in Human Neuroscience.2021;[Epub]     CrossRef
Article image
Generalized Chorea Due to Secondary Polycythemia Responding to Phlebotomy
Ajith Cherian, Naveen Kumar Paramasivan, Divya Kalikavil Puthanveedu, Syam Krishnan, Amitha Radhakrishnan Nair
J Mov Disord. 2021;14(1):89-91.   Published online October 31, 2020
DOI: https://doi.org/10.14802/jmd.20081
  • 4,960 View
  • 94 Download
  • 2 Web of Science
  • 2 Crossref
PDFSupplementary Material

Citations

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  • Monochorea after acute contralateral pontine infarction: A case report
    Yun Su Hwang, Byoung-Soo Shin, Han Uk Ryu, Hyun Goo Kang
    Medicine.2023; 102(3): e32660.     CrossRef
  • Chorea in the Elderly: A Differential Diagnosis and Case Report of Late-Onset Huntington’s Disease in an Octogenarian
    Alissa S. Higinbotham, Suzanne D. DeBrosse, Steven Gunzler
    Journal of Huntington's Disease.2023; 12(4): 377.     CrossRef

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