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Volume 14(1); January 2021
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Review Articles
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
  • 5,797 View
  • 344 Download
  • 4 Citations
AbstractAbstract PDF
Perry disease is a hereditary neurodegenerative disease with autosomal dominant inheritance. It is characterized by parkinsonism, psychiatric symptoms, unexpected weight loss, central hypoventilation, and transactive-response DNA-binding protein of 43kD (TDP-43) aggregation in the brain. In 2009, Perry disease was found to be caused by dynactin I gene (DCTN1), which encodes dynactin subunit p150 on chromosome 2p, in patients with the disease. The dynactin complex is a motor protein that is associated with axonal transport. Presently, at least 8 mutations and 22 families have been reported; other than the “classic” syndrome, distinct phenotypes are recognized. The neuropathology of Perry disease reveals severe degeneration in the substantia nigra and TDP-43 inclusions in the basal ganglia and brain stem. How dysfunction of the dynactin molecule is related to TDP-43 pathology in Perry disease is important to elucidate the pathological mechanism and develop new treatment.

Citations

Citations to this article as recorded by  
  • 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
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
  • 7,216 View
  • 536 Download
  • 17 Citations
AbstractAbstract PDF
Since the first description of immune-mediated cerebellar ataxias (IMCAs) by Charcot in 1868, several milestones have been reached in our understanding of this group of neurological disorders. IMCAs have diverse etiologies, such as gluten ataxia, postinfectious cerebellitis, paraneoplastic cerebellar degeneration, opsoclonus myoclonus syndrome, anti-GAD ataxia, and primary autoimmune cerebellar ataxia. The cerebellum, a vulnerable autoimmune target of the nervous system, has remarkable capacities (collectively known as the cerebellar reserve, closely linked to plasticity) to compensate and restore function following various pathological insults. Therefore, good prognosis is expected when immune-mediated therapeutic interventions are delivered during early stages when the cerebellar reserve can be preserved. However, some types of IMCAs show poor responses to immunotherapies, even if such therapies are introduced at an early stage. Thus, further research is needed to enhance our understanding of the autoimmune mechanisms underlying IMCAs, as such research could potentially lead to the development of more effective immunotherapies. We underscore the need to pursue the identification of robust biomarkers.

Citations

Citations to this article as recorded by  
  • Gluten Ataxia: an Underdiagnosed Condition
    Marios Hadjivassiliou, R. A. Grϋnewald
    The Cerebellum.2022; 21(4): 620.     CrossRef
  • Clinical Problem Solving: Decreased Level of Consciousness and Unexplained Hydrocephalus
    Naomi Niznick, Ronda Lun, Daniel A. Lelli, Tadeu A. Fantaneanu
    The Neurohospitalist.2022; 12(2): 312.     CrossRef
  • Pharmacotherapy of cerebellar and vestibular disorders
    João Lemos, Mario Manto
    Current Opinion in Neurology.2022; 35(1): 118.     CrossRef
  • Advances in the Pathogenesis of Auto-antibody-Induced Cerebellar Synaptopathies
    Hiroshi Mitoma, Mario Manto
    The Cerebellum.2022;[Epub]     CrossRef
  • A Breakdown of Immune Tolerance in the Cerebellum
    Christiane S. Hampe, Hiroshi Mitoma
    Brain Sciences.2022; 12(3): 328.     CrossRef
  • Acute Cerebellar Inflammation and Related Ataxia: Mechanisms and Pathophysiology
    Md. Sorwer Alam Parvez, Gen Ohtsuki
    Brain Sciences.2022; 12(3): 367.     CrossRef
  • A Case Report of Anti-PCA-2-Positive Autoimmune Cerebellitis
    霞 董
    Advances in Clinical Medicine.2022; 12(04): 3272.     CrossRef
  • Cell-Autonomous Processes That Impair Xenograft Survival into the Cerebellum
    Lorenzo Magrassi, Giulia Nato, Domenico Delia, Annalisa Buffo
    The Cerebellum.2022; 21(5): 821.     CrossRef
  • Diagnosis and Clinical Features in Autoimmune-Mediated Movement Disorders
    Pei-Chen Hsieh, Yih-Ru Wu
    Journal of Movement Disorders.2022; 15(2): 95.     CrossRef
  • Autoimmune cerebellar ataxia associated with anti-leucine-rich glioma-inactivated protein 1 antibodies: Two pediatric cases
    Zhang Weihua, Ren Haitao, Deng Jie, Ren Changhong, Zhou Ji, Zhou Anna, Guan Hongzhi, Ren Xiaotun
    Journal of Neuroimmunology.2022; 370: 577918.     CrossRef
  • Anti-dipeptidyl-peptidase-like protein 6 encephalitis with pure cerebellar ataxia: a case report
    Jing Lin, Min Zhu, Xiaocheng Mao, Zeqing Jin, Meihong Zhou, Daojun Hong
    BMC Neurology.2022;[Epub]     CrossRef
  • Central Positional Nystagmus
    Ana Inês Martins, André Jorge, João Lemos
    Current Treatment Options in Neurology.2022; 24(10): 453.     CrossRef
  • Paraneoplastic Ataxia: Antibodies at the Forefront Have Become Routine Biomarkers
    Lazaros C. Triarhou, Mario Manto
    The Cerebellum.2022;[Epub]     CrossRef
  • Rare Etiologies in Immune-Mediated Cerebellar Ataxias: Diagnostic Challenges
    Marios Hadjivassiliou, Mario Manto, Hiroshi Mitoma
    Brain Sciences.2022; 12(9): 1165.     CrossRef
  • Paraneoplastic syndromes in neuro-ophthalmology
    SimonJ Hickman
    Annals of Indian Academy of Neurology.2022; 25(8): 101.     CrossRef
  • Stiff-Eye Syndrome—Anti-GAD Ataxia Presenting with Isolated Ophthalmoplegia: A Case Report
    Abel Dantas Belém, Thaís de Maria Frota Vasconcelos, Rafael César dos Anjos de Paula, Francisco Bruno Santana da Costa, Pedro Gustavo Barros Rodrigues, Isabelle de Sousa Pereira, Paulo Roberto de Arruda Tavares, Gabriela Studart Galdino, Daniel Aguiar Dia
    Brain Sciences.2021; 11(7): 932.     CrossRef
  • Update on Paraneoplastic Cerebellar Degeneration
    Philipp Alexander Loehrer, Lara Zieger, Ole J. Simon
    Brain Sciences.2021; 11(11): 1414.     CrossRef
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
  • 6,590 View
  • 155 Download
  • 1 Citations
PDF

Citations

Citations to this article as recorded by  
  • COVID-19-related delays of botulinum toxin injections have a negative impact on the quality of life of patients with dystonia and spasticity: a single-center ambulatory care study
    Yvonne Teuschl, Christian Bancher, Michael Brainin, Alexandra Dachenhausen, Karl Matz, Michaela M. Pinter
    Journal of Neural Transmission.2022; 129(1): 49.     CrossRef
Original Articles
The Queensland Parkinson’s Project: An Overview of 20 Years of Mortality from Parkinson’s Disease
Peter Cornelis Poortvliet, Alexander Gluch, Peter A. Silburn, George D. Mellick
J Mov Disord. 2021;14(1):34-41.   Published online December 7, 2020
DOI: https://doi.org/10.14802/jmd.20034
  • 6,295 View
  • 163 Download
  • 6 Citations
AbstractAbstract PDF
Objective
The consensus is that life expectancy for individuals with Parkinson’s disease (PD) is reduced, but estimations vary. We aimed to provide an overview of 20 years of mortality and risk factor data from the Queensland Parkinson’s Project.
Methods
The analysis included 1,334 PD and 1,127 control participants. Preliminary analysis of baseline characteristics (sex, age at onset, family history, smoking status, pesticide exposure, depression and neurosurgery) was conducted, and Kaplan–Meier curves were generated for each potential risk factor. Standardized mortality ratios (SMRs) were calculated comparing this cohort to the general Australian population. Cox proportional hazards regression modeling was used to analyze potential predictors of mortality.
Results
In total, 625 (46.8%) PD and 237 (21.0%) control participants were deceased. Mean disease duration until death was 15.3 ± 7.84 years. Average ages at death were 78.0 ± 7.4 years and 80.4 ± 8.4 years for the deceased PD and control participants, respectively. Mortality was significantly increased for PD in general {SMR = 2.75 [95% confidence interval (CI): 2.53–2.96]; p = 0.001}. SMRs were slightly higher for women and those with an age of onset before 60 years. Multivariate analysis showed that deep brain stimulation (DBS) treatment was associated with lower mortality [hazard ratio (HR) = 0.76; 95% CI: 0.59–0.98], while occasional pesticide exposure increased mortality risk (HR = 1.48; 95% CI: 1.17–1.88). Family history of PD, smoking and depression were not independent predictors of mortality.
Conclusion
Mortality in PD is increased. Sex, age at onset and occasional pesticide exposure were independent determinants of increased mortality, while DBS treatment was associated with reduced mortality.

Citations

Citations to this article as recorded by  
  • Mortality of Parkinson’s disease in Italy from 1980 to 2015
    Monica Ulivelli, Daiana Bezzini, Lucia Kundisova, Ilaria Grazi, Mario Alberto Battaglia, Nicola Nante, Simone Rossi
    Neurological Sciences.2022; 43(6): 3603.     CrossRef
  • A nationwide study of the incidence, prevalence and mortality of Parkinson’s disease in the Norwegian population
    Brage Brakedal, Lilah Toker, Kristoffer Haugarvoll, Charalampos Tzoulis
    npj Parkinson's Disease.2022;[Epub]     CrossRef
  • Australian Parkinson’s Genetics Study (APGS): pilot (n=1532)
    Svetlana Bivol, George D Mellick, Jacob Gratten, Richard Parker, Aoibhe Mulcahy, Philip E Mosley, Peter C Poortvliet, Adrian I Campos, Brittany L Mitchell, Luis M Garcia-Marin, Simone Cross, Mary Ferguson, Penelope A Lind, Danuta Z Loesch, Peter M Vissche
    BMJ Open.2022; 12(2): e052032.     CrossRef
  • Therapeutic targeting of mitophagy in Parkinson's disease
    Shashank Masaldan, Sylvie Callegari, Grant Dewson
    Biochemical Society Transactions.2022; 50(2): 783.     CrossRef
  • Worldwide trends in mortality related to Parkinson's disease in the period of 1994–2019: Analysis of vital registration data from the WHO Mortality Database
    Ioannis C. Lampropoulos, Foteini Malli, Olga Sinani, Konstantinos I. Gourgoulianis, Georgia Xiromerisiou
    Frontiers in Neurology.2022;[Epub]     CrossRef
  • Effects of physician visit frequency for Parkinson’s disease treatment on mortality, hospitalization, and costs: a retrospective cohort study
    Takako Fujita, Akira Babazono, Sung-a Kim, Aziz Jamal, Yunfei Li
    BMC Geriatrics.2021;[Epub]     CrossRef
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
  • 5,944 View
  • 201 Download
  • 13 Citations
AbstractAbstract PDF
Objective
Motor and non-motor symptoms (NMS) negatively impact the health-related quality of life (HRQoL) for individuals with Parkinson’s disease (PD), as well as their caregivers. NMS can emerge decades prior to the manifestation of motor symptoms but often go unrecognized and therefore untreated. To guide clinical management, we surveyed differences and identified factors that influence HRQoL in a cohort of PD patients and family caregivers.
Methods
A total of 103 PD patients were compared with 81 caregivers. Outcome measures collected from validated questionnaires included generic and disease-specific HRQoL assessments, depression frequency and severity, constipation severity, upper and lower gastrointestinal symptoms, physical activity and motor symptom severity.
Results
PD patients reported significantly decreased physical and mental HRQoL compared to their caregivers (both p < 0.001). Unemployment, the need for social support services, rehabilitation use, REM sleep behavior disorder, impulse control disorders and features suggestive of increasing disease severity hallmarked by increasing PD duration, higher MDS UPDRS-III (Movement Disorder Society–Unified Parkinson’s Disease Rating Scale–Part III) scores, higher daily levodopa equivalence dose and motor fluctuations were consistent with a lower HRQoL in our PD cohort. Furthermore, decreased physical activity, chronic pain, depression, constipation and upper gastrointestinal dysfunction (particularly indigestion, excess fullness and bloating) suggested vulnerability to reduced HRQoL. Overall, PD patients perceived their health to decline by 12% more than their caregivers did over a 1-year period.
Conclusion
PD patients reported decreased HRQoL, with both motor symptoms and NMS negatively impacting HRQoL. Our findings support the routine clinical screening of HRQoL in PD patients to identify and address modifiable factors.

Citations

Citations to this article as recorded by  
  • The impact of device-assisted therapies on the gut microbiome in Parkinson’s disease
    Michal Lubomski, Xiangnan Xu, Andrew J. Holmes, Jean Y. H. Yang, Carolyn M. Sue, Ryan L. Davis
    Journal of Neurology.2022; 269(2): 780.     CrossRef
  • Predictive Model of Quality of Life in Patients with Parkinson’s Disease
    Eduardo Candel-Parra, María Pilar Córcoles-Jiménez, Victoria Delicado-Useros, Marta Carolina Ruiz-Grao, Antonio Hernández-Martínez, Milagros Molina-Alarcón
    International Journal of Environmental Research and Public Health.2022; 19(2): 672.     CrossRef
  • Die neue Parkinson-Schmerzklassifikation (PSK)
    V. Mylius, S. Perez Lloret, C. S. Brook, M. T. Krüger, S. Hägele-Link, R. Gonzenbach, J. Kassubek, S. Bohlhalter, J. P. Lefaucheur, L. Timmermann, G. Kägi, F. Brugger, D. Ciampi de Andrade, J. C. Möller
    Der Nervenarzt.2022; 93(10): 1019.     CrossRef
  • Quantification Analysis of Sleep Based on Smartwatch Sensors for Parkinson’s Disease
    Yi-Feng Ko, Pei-Hsin Kuo, Ching-Fu Wang, Yu-Jen Chen, Pei-Chi Chuang, Shih-Zhang Li, Bo-Wei Chen, Fu-Chi Yang, Yu-Chun Lo, Yi Yang, Shuan-Chu Vina Ro, Fu-Shan Jaw, Sheng-Huang Lin, You-Yin Chen
    Biosensors.2022; 12(2): 74.     CrossRef
  • Gastrointestinal Dysfunction Impact on Life Quality in a Cohort of Russian Patients with Parkinson’s Disease I-III H&Y Stage
    A. A. Pilipovich, O. V. Vorob’eva, S. A. Makarov, N. N. Shindryaeva, Yu D. Vorob’eva, Seyed-Mohammad Fereshtehnejad
    Parkinson's Disease.2022; 2022: 1.     CrossRef
  • Nutritional Intake and Gut Microbiome Composition Predict Parkinson’s Disease
    Michal Lubomski, Xiangnan Xu, Andrew J. Holmes, Samuel Muller, Jean Y. H. Yang, Ryan L. Davis, Carolyn M. Sue
    Frontiers in Aging Neuroscience.2022;[Epub]     CrossRef
  • The Gut Microbiome in Parkinson’s Disease: A Longitudinal Study of the Impacts on Disease Progression and the Use of Device-Assisted Therapies
    Michal Lubomski, Xiangnan Xu, Andrew J. Holmes, Samuel Muller, Jean Y. H. Yang, Ryan L. Davis, Carolyn M. Sue
    Frontiers in Aging Neuroscience.2022;[Epub]     CrossRef
  • Characteristics and quality of life of substance users and their caregivers
    Jadranka M. Maksimovic, Olivera B. Sbutega, Aleksandar D. Pavlovic, Hristina D. Vlajinac, Ivana I. Kavecan, Isidora S. Vujcic, Sandra B. Grujicic Sipetic
    Medicine.2022; 101(31): e29699.     CrossRef
  • Defining the unknowns for cell therapies in Parkinson's disease
    Emma L. Lane, Mariah J. Lelos
    Disease Models & Mechanisms.2022;[Epub]     CrossRef
  • Increased Added Sugar Consumption Is Common in Parkinson's Disease
    Natalie C. Palavra, Michal Lubomski, Victoria M. Flood, Ryan L. Davis, Carolyn M. Sue
    Frontiers in Nutrition.2021;[Epub]     CrossRef
  • Relationship Satisfaction in People with Parkinson’s Disease and Their Caregivers: A Cross-Sectional Observational Study
    Johanne Heine, Hannah von Eichel, Selma Staege, Günter U. Höglinger, Florian Wegner, Martin Klietz
    Brain Sciences.2021; 11(6): 822.     CrossRef
  • Diagnosis and Management of Pain in Parkinson's Disease: A New Approach
    Veit Mylius, Jens Carsten Möller, Stephan Bohlhalter, Daniel Ciampi de Andrade, Santiago Perez Lloret
    Drugs & Aging.2021; 38(7): 559.     CrossRef
  • Cognitive Influences in Parkinson's Disease Patients and Their Caregivers: Perspectives From an Australian Cohort
    Michal Lubomski, Ryan L. Davis, Carolyn M. Sue
    Frontiers in Neurology.2021;[Epub]     CrossRef
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
  • 3,596 View
  • 82 Download
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.
Brief communication
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
  • 3,849 View
  • 106 Download
  • 2 Citations
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

Citations to this article as recorded by  
  • 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
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
  • 3,507 View
  • 118 Download
  • 1 Citations
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

Citations to this article as recorded by  
  • 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.2022;[Epub]     CrossRef
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
  • 4,581 View
  • 89 Download
  • 1 Citations
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

Citations to this article as recorded by  
  • 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
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
  • 3,977 View
  • 106 Download
  • 2 Citations
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

Citations to this article as recorded by  
  • 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
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
  • 3,917 View
  • 125 Download
PDF
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
  • 4,431 View
  • 57 Download
PDF
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
  • 3,173 View
  • 62 Download
PDFSupplementary Material
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
  • 4,108 View
  • 78 Download
  • 1 Citations
PDFSupplementary Material

Citations

Citations to this article as recorded by  
  • 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
Generalized Chorea Due to Secondary Polycythemia Responding to Phlebotomy
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J Mov Disord. 2021;14(1):89-91.   Published online October 31, 2020
DOI: https://doi.org/10.14802/jmd.20081
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JMD : Journal of Movement Disorders