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JMD : Journal of Movement Disorders

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Review Articles
Diagnosis and Clinical Features in Autoimmune-Mediated Movement Disorders
Pei-Chen Hsieh, Yih-Ru Wu
J Mov Disord. 2022;15(2):95-105.   Published online May 26, 2022
DOI: https://doi.org/10.14802/jmd.21077
  • 1,463 View
  • 263 Download
AbstractAbstract PDFSupplementary Material
Movement disorders are common manifestations in autoimmune-mediated encephalitis. This group of diseases is suspected to be triggered by infection or neoplasm. Certain phenotypes correlate with specific autoantibody-related neurological disorders, such as orofacial-lingual dyskinesia with N-methyl-D-aspartate receptor encephalitis and faciobrachial dystonic seizures with leucine-rich glioma-inactivated protein 1 encephalitis. Early diagnosis and treatment, especially for autoantibodies targeting neuronal surface antigens, can improve prognosis. In contrast, the presence of autoantibodies against intracellular neuronal agents warrants screening for underlying malignancy. However, early clinical diagnosis is challenging because these diseases can be misdiagnosed. In this article, we review the distinctive clinical phenotypes, magnetic resonance imaging findings, and current treatment options for autoimmune-mediated encephalitis.
Gene Therapy for Huntington’s Disease: The Final Strategy for a Cure?
Seulgi Byun, Mijung Lee, Manho Kim
J Mov Disord. 2022;15(1):15-20.   Published online November 17, 2021
DOI: https://doi.org/10.14802/jmd.21006
  • 2,784 View
  • 319 Download
  • 1 Citations
AbstractAbstract PDF
Huntington’s disease (HD) has become a target of the first clinical trials for gene therapy among movement disorders with a genetic origin. More than 100 clinical trials regarding HD have been tried, but all failed, although there were some improvements limited to symptomatic support. Compared to other neurogenetic disorders, HD is known to have a single genetic target. Thus, this is an advantage and its cure is more feasible than any other movement disorder with heterogeneous genetic causes. In this review paper, the authors attempt to cover the characteristics of HD itself while providing an overview of the gene transfer methods currently being researched, and will introduce an experimental trial with a preclinical model of HD followed by an update on the ongoing clinical trials for patients with HD.
Brief communication
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
  • 1,950 View
  • 73 Download
  • 2 Citations
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.
Original Articles
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
  • 2,816 View
  • 72 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.
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
  • 3,301 View
  • 120 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.
Case Report
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
  • 3,627 View
  • 101 Download
  • 1 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.
Original Article
Comparison of Spontaneous Motor Tempo during Finger Tapping, Toe Tapping and Stepping on the Spot in People with and without Parkinson’s Disease
Dawn Rose, Daniel J. Cameron, Peter J. Lovatt, Jessica A. Grahn, Lucy E. Annett
J Mov Disord. 2020;13(1):47-56.   Published online January 31, 2020
DOI: https://doi.org/10.14802/jmd.19043
  • 10,842 View
  • 136 Download
  • 7 Citations
AbstractAbstract PDFSupplementary Material
Objective
Spontaneous motor tempo (SMT), observed in walking, tapping and clapping, tends to occur around 2 Hz. Initiating and controlling movement can be difficult for people with Parkinson’s (PWP), but studies have not identified whether PWP differ from controls in SMT. For community-based interventions, e.g. dancing, it would be helpful to know a baseline SMT to optimize the tempi of cued activities. Therefore, this study compared finger tapping (FT), toe tapping (TT) and stepping ‘on the spot’ (SS) in PWP and two groups of healthy controls [age-matched controls (AMC) and young healthy controls (YHC)], as SMT is known to change with age.
Methods
Participants (PWP; n = 30, AMC; n = 23, YHC; n = 35) were asked to tap or step on the spot at a natural pace for two trials lasting 40 seconds. The central 30 seconds were averaged for analyses using mean inter-onset intervals (IOI) and coefficient of variation (CoV) to measure rate and variability respectively.
Results
PWP had faster SMT than both control groups, depending on the movement modality: FT, F(2, 87) = 7.92, p < 0.01 (PWP faster than YHC); TT, F(2, 87) = 4.89, p = 0.01 (PWP faster than AMC); and SS, F(2, 77) = 3.26, p = 0.04 (PWP faster than AMC). PWP had higher CoV (more variable tapping) than AMC in FT only, F(2, 87) = 4.10, p = 0.02.
Conclusion
This study provides the first direct comparison of SMT between PWP and two control groups for different types of movements. Results suggest SMT is generally faster in PWP than control groups, and more variable when measured with finger tapping compared to stepping on the spot.
Review Article
Abnormal Eye Movements in Parkinsonism and Movement Disorders
Ileok Jung, Ji-Soo Kim
J Mov Disord. 2019;12(1):1-13.   Published online January 30, 2019
DOI: https://doi.org/10.14802/jmd.18034
  • 11,274 View
  • 719 Download
  • 17 Citations
AbstractAbstract PDFSupplementary Material
Abnormal eye movements are commonly observed in movement disorders. Ocular motility examination should include bedside evaluation and laboratory recording of ocular misalignment, involuntary eye movements, including nystagmus and saccadic intrusions/oscillations, triggered nystagmus, saccades, smooth pursuit (SP), and the vestibulo-ocular reflex. Patients with Parkinson’s disease (PD) mostly show hypometric saccades, especially for the selfpaced saccades, and impaired SP. Early vertical saccadic palsy is characteristic of progressive supranuclear palsy-Richardson’s syndrome. Patients with cortico-basal syndrome typically show a delayed onset of saccades. Downbeat and gaze-evoked nystagmus and hypermetric saccades are characteristic ocular motor findings in ataxic disorders due to cerebellar dysfunction. In this review, we discuss various ocular motor findings in movement disorders, including PD and related disorders, ataxic syndromes, and hyperkinetic movement disorders. Systemic evaluation of the ocular motor functions may provide valuable information for early detection and monitoring of movement disorders, despite an overlap in the abnormal eye movements among different movement disorders.
Original Articles
Clinical Characteristics of Involuntary Movement in Hospitalized Patients
Kyum-Yil Kwon, Hye Mi Lee, Seon-Min Lee, Seong-Beom Koh
J Mov Disord. 2019;12(1):31-36.   Published online December 20, 2018
DOI: https://doi.org/10.14802/jmd.18040
  • 4,668 View
  • 169 Download
  • 1 Citations
AbstractAbstract PDF
Objective
Neurological symptoms in hospitalized patients are not rare, and neurological consultation for movement disorders is especially important in evaluating or managing those with various movement disorders. Therefore, we investigated a clinical pattern of in-hospital consultations for various movement disorders in a tertiary care university hospital.
Methods
Over two years, a total of 202 patients (70.7 ± 11.8 years of age) presenting with movement disorders referred to movement disorder specialists were investigated.
Results
The main symptoms referred by nonneurologists were tremor (56.9%), parkinsonism (16.8%), and gait disturbance (8.9%). The most frequent diagnostic category was toxic/metabolic-caused movement disorder (T/MCMD) (35%) with regard to medications, followed by Parkinson’s disease (PD) (16%). Regarding the mode of onset, T/MCMD was the leading cause for acute (68%) and subacute onset (46%), while PD was the leading disorder (31%) for chronic onset.
Conclusion
The current study showed a characteristic pattern of inpatients presenting with movement disorders. Furthermore, our findings highlighted the clinical significance of drug use or metabolic problems for treating this patient population.
Oromandibular Dystonia: Demographics and Clinical Data from 240 Patients
Linda Slaim, Myriam Cohen, Patrick Klap, Marie Vidailhet, Alain Perrin, Daniel Brasnu, Denis Ayache, Marie Mailly
J Mov Disord. 2018;11(2):78-81.   Published online May 30, 2018
DOI: https://doi.org/10.14802/jmd.17065
  • 5,238 View
  • 196 Download
  • 21 Citations
AbstractAbstract PDF
Objective
To report demographic data from a large cohort of patients with oromandibular dystonia (OMD).
Methods
This is a retrospective review of patients with OMD referred to our institution between 1989 and 2015. Demographic (age of onset, gender, and familial history of dystonia) and clinical (type of OMD, associated dystonia, and etiology of dystonia) data were collected from a cohort of 240 individuals.
Results
The mean age of onset of OMD was 51.6 years old, with a female predominance (2:1). A family history of dystonia was found in 6 patients (2.5%). One hundred and forty-nine patients (62.1%) had the jaw-opening type of OMD, 48 patients (20.0%) had the jaw-closing type, and 43 patients (17.9%) had a mixed form of OMD. Lingual dystonia was also present in 64 (26.7%) of these patients. Eighty-two patients (34.2%) had a focal dystonia, 131 patients (54.6%) had a segmental dystonia, and 27 patients (11.3%) had a generalized dystonia. One hundred and seventy-one patients (71.3%) had idiopathic OMD.
Conclusion
OMD is a chronic and disabling focal dystonia. Our study found a prevalence of female patients, an onset in middle age and a predominantly idiopathic etiology. Unlike other studies, jaw-opening was found to be the most frequent clinical type of OMD.
Case Report
Paroxysmal Kinesigenic Dyskinesia as the Presenting and Only Manifestation of Multiple Sclerosis after Eighteen Months of Follow-Up
Marius Baguma, Michel Ossemann
J Mov Disord. 2017;10(2):96-98.   Published online March 24, 2017
DOI: https://doi.org/10.14802/jmd.16055
  • 6,694 View
  • 157 Download
  • 3 Citations
AbstractAbstract PDF
Other than tremor, movement disorders are uncommon in multiple sclerosis. Among these uncommon clinical manifestations, paroxysmal kinesigenic dyskinesia is the most frequently reported. It is characterized by episodic attacks of involuntary movements that are induced by repetitive or sudden movements, startling noise or hyperventilation. The diagnosis is essentially clinical and based on a good observation of the attacks. It is very easy to misdiagnose it. We describe the case of a young female patient who presented paroxysmal kinesigenic dyskinesia as the first and only clinical manifestation of multiple sclerosis, with no recurrence of attacks nor any other neurologic symptom after eighteen months of follow-up.
Original Article
Psychodynamic Psychotherapy for Functional (Psychogenic) Movement Disorders
Vibhash D. Sharma, Randi Jones, Stewart A. Factor
J Mov Disord. 2017;10(1):40-44.   Published online December 27, 2016
DOI: https://doi.org/10.14802/jmd.16038
  • 10,602 View
  • 171 Download
  • 8 Citations
AbstractAbstract PDF
Objective
As the literature for the treatment of functional (psychogenic) movement disorders (FMD) is sparse, we assessed clinical outcomes in patients with FMD who underwent treatment with psychodynamic psychotherapy (PDP).
Methods
A retrospective analysis of the data of patients with FMD who were referred for PDP from 2008−2014 at Emory University Medical Center was performed.
Results
Thirty patients were included, mean age at presentation was 50 years (SD 13.9) and majority were female (27/30). Most common movement disorder was involuntary shaking/jerky movements (50%) and tremor (43%). Mean duration of symptoms was 3.2 years and mean number of PDP visits was 4.9. PDP lead to good outcomes in 10, modest in 8, and poor in 9. Three patients lost to follow up. Mean duration of symptoms between two groups (good vs. poor) was not statistically significant (p = 0.11), mean number of PDP visits showed a trend towards significance (p = 0.053). In all cases of good outcomes precipitants of the movement disorder were identified and a majority (60%) was receptive of the diagnosis and had good insight.
Conclusion
PDP lead to improvement in 60% of the patients which is encouraging as the treatment is challenging. This study supports heterogeneous causes of FMD including varied roles of past/recent events and demonstrates importance of psychological approaches such as PDP. Treatment with PDP should be considered in some patients with FMD but predicting who will respond remains a challenge. Further long term prospective studies with large sample size and placebo control are needed.
Review Articles
Applications of CRISPR/Cas9 for Gene Editing in Hereditary Movement Disorders
Wooseok Im, Jangsup Moon, Manho Kim
J Mov Disord. 2016;9(3):136-143.   Published online September 21, 2016
DOI: https://doi.org/10.14802/jmd.16029
  • 18,037 View
  • 608 Download
  • 8 Citations
AbstractAbstract PDF
Gene therapy is a potential therapeutic strategy for treating hereditary movement disorders, including hereditary ataxia, dystonia, Huntington’s disease, and Parkinson’s disease. Genome editing is a type of genetic engineering in which DNA is inserted, deleted or replaced in the genome using modified nucleases. Recently, clustered regularly interspaced short palindromic repeat/CRISPR associated protein 9 (CRISPR/Cas9) has been used as an essential tool in biotechnology. Cas9 is an RNA-guided DNA endonuclease enzyme that was originally associated with the adaptive immune system of Streptococcus pyogenes and is now being utilized as a genome editing tool to induce double strand breaks in DNA. CRISPR/Cas9 has advantages in terms of clinical applicability over other genome editing technologies such as zinc-finger nucleases and transcription activator-like effector nucleases because of easy in vivo delivery. Here, we review and discuss the applicability of CRISPR/Cas9 to preclinical studies or gene therapy in hereditary movement disorders.
Movement Disorders Following Cerebrovascular Lesions: Etiology, Treatment Options and Prognosis
Do-Young Kwon
J Mov Disord. 2016;9(2):63-70.   Published online May 25, 2016
DOI: https://doi.org/10.14802/jmd.16008
  • 18,820 View
  • 579 Download
  • 9 Citations
AbstractAbstract PDF
Post-stroke movement disorders are uncommon, but comprise an important part of secondary movement disorders. These exert variable and heterogeneous clinical courses according to the stroke lesion and its temporal relationships. Moreover, the predominant stroke symptoms hinder a proper diagnosis in clinical practice. This article describes the etiology, treatment options and prognosis of post-stroke movement disorders.
Movement Disorders Following Cerebrovascular Lesion in the Basal Ganglia Circuit
Jinse Park
J Mov Disord. 2016;9(2):71-79.   Published online May 25, 2016
DOI: https://doi.org/10.14802/jmd.16005
  • 24,934 View
  • 815 Download
  • 27 Citations
AbstractAbstract PDF
Movement disorders are primarily associated with the basal ganglia and the thalamus; therefore, movement disorders are more frequently manifest after stroke compared with neurological injuries associated with other structures of the brain. Overall clinical features, such as types of movement disorder, the time of onset and prognosis, are similar with movement disorders after stroke in other structures. Dystonia and chorea are commonly occurring post-stroke movement disorders in basal ganglia circuit, and these disorders rarely present with tremor. Rarer movement disorders, including tic, restless leg syndrome, and blepharospasm, can also develop following a stroke. Although the precise mechanisms underlying the pathogenesis of these conditions have not been fully characterized, disruptions in the crosstalk between the inhibitory and excitatory circuits resulting from vascular insult are proposed to be the underlying cause. The GABA (gamma-aminobutyric acid)ergic and dopaminergic systems play key roles in post-stroke movement disorders. This review summarizes movement disorders induced by basal ganglia and thalamic stroke according to the anatomical regions in which they manifest.

JMD : Journal of Movement Disorders