Journal of Movement Disorders

Review Articles

Nine Hereditary Movement Disorders First Described in Asia: Their History and Evolution: Priya Jagota, Yoshikazu Ugawa, Zakiyah Aldaajani, Norlinah Mohamed Ibrahim, Hiroyuki Ishiura, Yoshiko Nomura, Shoji Tsuji, Cid Diesta, Nobutaka Hattori, Osamu Onodera, Saeed Bohlega, Amir Al-Din, Shen-Yang Lim, Jee-Young Lee, Beomseok Jeon, Pramod Kumar Pal, Huifang Shang, Shinsuke Fujioka, Prashanth Lingappa Kukkle, Onanong Phokaewvarangkul, Chin-Hsien Lin, Cholpon Shambetova, Roongroj Bhidayasiri; J Mov Disord. 2023;16(3):231-247. Published online June 13, 2023; DOI: https://doi.org/10.14802/jmd.23065

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Abstract PDF Supplementary Material: Clinical case studies and reporting are important to the discovery of new disorders and the advancement of medical sciences. Both clinicians and basic scientists play equally important roles leading to treatment discoveries for both cures and symptoms. In the field of movement disorders, exceptional observation of patients from clinicians is imperative, not just for phenomenology but also for the variable occurrences of these disorders, along with other signs and symptoms, throughout the day and the disease course. The Movement Disorders in Asia Task Force (TF) was formed to help enhance and promote collaboration and research on movement disorders within the region. As a start, the TF has reviewed the original studies of the movement disorders that were preliminarily described in the region. These include nine disorders that were first described in Asia: Segawa disease, PARK-Parkin, X-linked dystonia-parkinsonism, dentatorubral-pallidoluysian atrophy, Woodhouse-Sakati syndrome, benign adult familial myoclonic epilepsy, Kufor-Rakeb disease, tremulous dystonia associated with mutation of the calmodulin-binding transcription activator 2 gene, and paroxysmal kinesigenic dyskinesia. We hope that the information provided will honor the original researchers and help us learn and understand how earlier neurologists and basic scientists together discovered new disorders and made advances in the field, which impact us all to this day.

Historical and More Common Nongenetic Movement Disorders From Asia: Norlinah Mohamed Ibrahim, Priya Jagota, Pramod Kumar Pal, Roongroj Bhidayasiri, Shen-Yang Lim, Yoshikazu Ugawa, Zakiyah Aldaajani, Beomseok Jeon, Shinsuke Fujioka, Jee-Young Lee, Prashanth Lingappa Kukkle, Huifang Shang, Onanong Phokaewvarangkul, Cid Diesta, Cholpon Shambetova, Chin-Hsien Lin; J Mov Disord. 2023;16(3):248-260. Published online June 9, 2023; DOI: https://doi.org/10.14802/jmd.22224

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Abstract PDF Supplementary Material: Nongenetic movement disorders are common throughout the world. The movement disorders encountered may vary depending on the prevalence of certain disorders across various geographical regions. In this paper, we review historical and more common nongenetic movement disorders in Asia. The underlying causes of these movement disorders are diverse and include, among others, nutritional deficiencies, toxic and metabolic causes, and cultural Latah syndrome, contributed by geographical, economic, and cultural differences across Asia. The industrial revolution in Japan and Korea has led to diseases related to environmental toxin poisoning, such as Minamata disease and β-fluoroethyl acetate-associated cerebellar degeneration, respectively, while religious dietary restriction in the Indian subcontinent has led to infantile tremor syndrome related to vitamin B12 deficiency. In this review, we identify the salient features and key contributing factors in the development of these disorders.

Adult-Onset Genetic Leukoencephalopathies With Movement Disorders: Mu-Hui Fu, Yung-Yee Chang; J Mov Disord. 2023;16(2):115-132. Published online March 7, 2023; DOI: https://doi.org/10.14802/jmd.22127

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Abstract PDF: Genetic leukoencephalopathies (GLEs) are a group of white matter abnormalities with heterogeneous radiological and phenotypic features. Although these conditions have mostly been described in children, adult-onset cases are increasingly recognized owing to the widespread use of neuroimaging and advances in molecular genetic testing. The disease course is often progressive with a varied spectrum of presentations, trapping neurologists in the dilemma of differential diagnosis. Movement disorders are among the most common symptoms, and their diversity makes diagnosis challenging. In this review, we focus on adult-onset GLEs with movement disorders and offer a step-by-step diagnostic approach by clarifying the phenomenology of movement, advising investigations for acquired causes, describing the clinical and radiological clues to each disease, emphasizing the limitations of advanced molecular testing, and discussing the future application of artificial intelligence. We provide a list summarizing the leukoencephalopathies associated with different categories of movement disorders. In addition to guiding clinicians on how to narrow the list of differential diagnoses with the tools currently available, another aim of this review is to emphasize the inevitable trend toward applying advanced technology in diagnosing these difficult diseases.

Treatable Ataxias: How to Find the Needle in the Haystack?: Albert Stezin, Pramod Kumar Pal; J Mov Disord. 2022;15(3):206-226. Published online September 7, 2022; DOI: https://doi.org/10.14802/jmd.22069

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Abstract PDF

Treatable ataxias are a group of ataxic disorders with specific treatments. These disorders include genetic and metabolic disorders, immune-mediated ataxic disorders, and ataxic disorders associated with infectious and parainfectious etiology, vascular causes, toxins and chemicals, and endocrinopathies. This review provides a comprehensive overview of different treatable ataxias. The major metabolic and genetic treatable ataxic disorders include ataxia with vitamin E deficiency, abetalipoproteinemia, cerebrotendinous xanthomatosis, Niemann-Pick disease type C, autosomal recessive cerebellar ataxia due to coenzyme Q10 deficiency, glucose transporter type 1 deficiency, and episodic ataxia type 2. The treatment of these disorders includes the replacement of deficient cofactors and vitamins, dietary modifications, and other specific treatments. Treatable ataxias with immune-mediated etiologies include gluten ataxia, anti-glutamic acid decarboxylase antibody-associated ataxia, steroid-responsive encephalopathy associated with autoimmune thyroiditis, Miller-Fisher syndrome, multiple sclerosis, and paraneoplastic cerebellar degeneration. Although dietary modification with a gluten-free diet is adequate in gluten ataxia, other autoimmune ataxias are managed by short-course steroids, plasma exchange, or immunomodulation. For autoimmune ataxias secondary to malignancy, treatment of tumor can reduce ataxic symptoms. Chronic alcohol consumption, antiepileptics, anticancer drugs, exposure to insecticides, heavy metals, and recreational drugs are potentially avoidable and treatable causes of ataxia. Infective and parainfectious causes of cerebellar ataxias include acute cerebellitis, postinfectious ataxia, Whipple’s disease, meningoencephalitis, and progressive multifocal leukoencephalopathy. These disorders are treated with steroids and antibiotics. Recognizing treatable disorders is of paramount importance when dealing with ataxias given that early treatment can prevent permanent neurological sequelae.

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Rehabilitation in ataxia
Anupam Gupta, NavinB Prakash, Hafis Rahman
Indian Journal of Physical Medicine & Rehabilitation.2023; 33(1): 21. CrossRef

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

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Abstract PDF Supplementary 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.

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

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Abstract PDF Supplementary 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.

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Clinical and genetic characteristics of 36 children with Joubert syndrome
Yan Dong, Ke Zhang, He Yao, Tianming Jia, Jun Wang, Dengna Zhu, Falin Xu, Meiying Cheng, Shichao Zhao, Xiaoyi Shi
Frontiers in Pediatrics.2023;[Epub] CrossRef
CEP104 gene may involve in the pathogenesis of a new developmental disorder other than joubert syndrome
Reza Shervin Badv, Mojdeh Mahdiannasser, Maryam Rasoulinezhad, Laleh Habibi, Ali Rashidi-Nezhad
Molecular Biology Reports.2022; 49(8): 7231. CrossRef
Congenital Brain Malformations: An Integrated Diagnostic Approach
Bimal P. Chaudhari, Mai-Lan Ho
Seminars in Pediatric Neurology.2022; 42: 100973. CrossRef

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

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Abstract PDF Supplementary 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

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Abstract 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.

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Andreas Wolfgang Wolff, Bernhard Haller, Antonia Franziska Demleitner, Dominik Pürner, Johanna Niederschweiberer, Isabell Cordts, Erica Westenberg, Paul Lingor
Movement Disorders Clinical Practice.2023; 10(5): 819. CrossRef
Telemedicine technologies and applications in the era of COVID-19 pandemic: A systematic review
Esmaeil Mehraeen, SeyedAhmad SeyedAlinaghi, Mohammad Heydari, Amirali Karimi, Abdollah Mahdavi, Mehrnaz Mashoufi, Arezoo Sarmad, Peyman Mirghaderi, Ahmadreza Shamsabadi, Kowsar Qaderi, Pegah Mirzapour, Amirata Fakhfouri, Hadiseh Azadi Cheshmekabodi, Kimia
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Racial disparities in access to DBS: results of a real-world U.S. claims data analysis
Michael Frassica, Drew S. Kern, Mitra Afshari, Allison T. Connolly, Chengyuan Wu, Nathan Rowland, Juan Ramirez-Castaneda, Mwiza Ushe, Claudia Salazar, Xenos Mason
Frontiers in Neurology.2023;[Epub] CrossRef
Interest and Satisfaction of Telemedicine Use Among Ambulatory Neurology Patients in Western North Carolina During the COVID-19 Pandemic
K. Alexander Soltany, Reyna Segovia Molina, Carly Pappo, Sharon Thomson, Kelly Pring, Siobhan Cox, Rebecca Merrill, Emily Fishman, Alexander Ambrosini, Gabby Bognet, Kristen Dodenhoff, Heidi Munger Clary, Lauren Strauss, Rachel Graham, Amy K. Guzik, Roy E
Telemedicine and e-Health.2023;[Epub] CrossRef
Parkinson’s disease patients’ perspective on telephone visits during the COVID-19 pandemic
Marta Magriço, Miguel Serôdio, Rita Ventura, Paulo Bugalho
Journal of Neural Transmission.2023;[Epub] CrossRef
Telemedicine in Neurology: A Scoping Review of Key Outcomes in Movement Disorders
Emily Houston, Amanda G. Kennedy, Donna O'Malley, Terry Rabinowitz, Gail L. Rose, James Boyd
Telemedicine and e-Health.2022; 28(3): 295. CrossRef
Clinician and patient experience of neurology telephone consultations during the COVID-19 pandemic
Tagore Nakornchai, Elena Conci, Anke Hensiek, J William L Brown
Postgraduate Medical Journal.2022; 98(1161): 533. CrossRef
Moving Forward from the COVID-19 Pandemic: Needed Changes in Movement Disorders Care and Research
B. Y. Valdovinos, J. S. Modica, R. B. Schneider
Current Neurology and Neuroscience Reports.2022; 22(2): 113. CrossRef
Movement Disorder Specialists Survey Regarding Use of Telemedicine During the COVID-19 Pandemic
Shadi Ghourchian, Yasar A. Torres-Yaghi, Stuart H. Isaacson, Fernando Pagan, Kelly E. Lyons, Brian James Nagle, Sanskruti Patel, Rajesh Pahwa
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Attitudes Toward Telehealth Services Among People Living With Parkinson's Disease: A Survey Study
Yaqian Xu, Megan P. Feeney, Matthew Surface, Dan Novak, Michelle S. Troche, James C. Beck, Roy N. Alcalay
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Service process factors affecting patients’ and clinicians’ experiences on rapid teleconsultation implementation in out-patient neurology services during COVID-19 pandemic: a scoping review
Guangxia Meng, Carrie McAiney, Christopher M. Perlman, Ian McKillop, Therese Tisseverasinghe, Helen H. Chen
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Telemedicine in the Management of Parkinson’s Disease: Achievements, Challenges, and Future Perspectives
Esther Cubo, Pedro David Delgado-López
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Clinician Perceptions of the Negative Impact of Telehealth Services in the Management of Drug-Induced Movement Disorders and Opportunities for Quality Improvement: A 2021 Internet-Based Survey
Rimal Bera, Morgan Bron, Betsy Benning, Samantha Cicero, Heintje Calara, Diane Darling, Ericha Franey, Kendra Martello, Charles Yonan
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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

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Abstract 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.

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Oromandibular Dystonia: Clinical and Demographic Data from Eight-Two Patients
Mehmet Balal, Meltem Demirkiran
Tremor and Other Hyperkinetic Movements.2023;[Epub] CrossRef
Oromandibular Dystonia is a Prominent Feature in Patients with Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency
Helio van der Linden Jr., Christiane Cobas, Andre Felipe Pinto Duarte, Marcelo Rodrigues Masruha
Journal of Inborn Errors of Metabolism and Screening.2023;[Epub] CrossRef
Tongue dystonia as CIS and presenting symptom of multiple sclerosis
Farid Shamlou, Narges Ebrahimi, Ahmad Chitsaz
Neuroimmunology Reports.2023; : 100191. CrossRef
Oromandibular dystonia – A systematic review
Udit Saraf, Mitesh Chandarana, KP Divya, Syam Krishnan
Annals of Indian Academy of Neurology.2022; 25(1): 26. CrossRef
Botulinum Toxin Therapy for Oromandibular Dystonia and Other Movement Disorders in the Stomatognathic System
Kazuya Yoshida
Toxins.2022; 14(4): 282. CrossRef
Botulinum toxin injections in jaw-opening dystonia. The lateral pterygoid – maxillary artery problem
Sena Ünal, F. Tugra Karaarslan-Turk, Muhittin Cenk Akbostanci, Elif Peker, Rezzak Yilmaz
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Oromandibular dystonia seen during pramipexole treatment: A rare case
Fatma KARA, Mehmet Fatih GÖL, Ayhan VARLIBAŞ
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Matteo Bologna, Josep Valls-Solè, Nitish Kamble, Pramod Kumar Pal, Antonella Conte, Andrea Guerra, Daniele Belvisi, Alfredo Berardelli
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Charenya Anandan, Joseph Jankovic
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Temporomandibular disorder–related characteristics and treatment outcomes in Oromandibular Dystonia patients in two different clinical settings: A cross‐sectional study
Asha Sude, Joseph Matsumoto, Shanti Kaimal, Ashley Petersen, Donald R. Nixdorf
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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

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Abstract 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.

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Recommendations for the diagnosis and treatment of paroxysmal kinesigenic dyskinesia: an expert consensus in China
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Les mouvements anormaux : mise au point
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Lesion correlates of secondary paroxysmal dyskinesia in multiple sclerosis
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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

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Abstract 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.

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Petra Schwingenschuh, Alberto J. Espay
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Erin M. Beal, Peter Coates, Cara Pelser
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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

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619 Download
10 Citations

Abstract 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.

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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

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663 Download
11 Citations

Abstract 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.

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Original Article

Movement Disorders in Non-Wilsonian Cirrhotic Patients: A Report of the Prevalence and Risk Factors from a Study Done in a Medical School in an Agricultural-Based Community: Kulthida Methawasin, Piyanant Chonmaitree, Chatchawan Wongjitrat, Suthee Rattanamongkolgul, Thanin Asawavichienjinda; J Mov Disord. 2016;9(1):28-34. Published online December 3, 2015; DOI: https://doi.org/10.14802/jmd.15034

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81 Download
1 Citations

Abstract PDF

Objective
Parkinsonism and other movement disorders have previously been reported in the acquired hepatocerebral degeneration associated with portosystemic shunting. However, there is no study to date about their prevalence as has been noted in general practice.
Methods
One hundred and forty-three patients with hepatic cirrhosis from the gastroenterology clinic and internal medicine wards were enrolled. Liver data included the diagnoses, etiologies, assessments of complications, and treatments for cirrhosis. Hepatic encephalopathy was classified with regard to the West Haven criteria for semi-quantitative grading for mental status. Neurological examination results and abnormal involuntary movements were recorded as primary outcomes. Neuro-radiology was used for the detection of severe brain lesions.
Results
Alcoholism was the most common cause of liver cirrhosis. Eighty-three patients (58%) presented with movement disorders. Asterixis was found in one of the cases. The most common movement disorder seen was an intentional tremor at 37.1%, which was followed by bradykinesia, Parkinsonism, and postural tremors at 29.4%, 10.5%, and 6.3%, respectively. The prevalence of movement disorders simultaneously increased with a high Child-Turcotte-Pugh score. The hepatic encephalopathy was grade 1 and 2. With the inclusion of age-range adjustments, we found that alcoholic cirrhosis and hepatic encephalopathy are statistically significant factors [p < 0.05, odds ratio (OR) = 6.41, 95% confidence interval (CI) 1.38–29.71 and p < 0.001, OR = 13.65, 95% CI 4.71–39.54] for the development of movement disorders in non-Wilsonian cirrhotic patients. Conclusions Intentional tremor is a common abnormal movement. Alcoholic cirrhosis and hepatic encephalopathy are significant risk factors in the development of movement disorders in non-Wilsonian cirrhotic patients.

Citations

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A Prospective Study of the Prevalence of Parkinsonism in Patients With Liver Cirrhosis
Diana Apetauerova, Peter Hildebrand, Stephanie Scala, Janet W. Zani, LeeAnne Lipert, Erin Clark, Tanya Fennell, Fredric D. Gordon
Hepatology Communications.2021; 5(2): 323. CrossRef

Case Report

Giant Middle Fossa Epidermoid Presenting as Holmes’ Tremor Syndrome: Bindu Menon, P Sasikala, Amit Agrawal; J Mov Disord. 2014;7(1):22-24. Published online April 30, 2014; DOI: https://doi.org/10.14802/jmd.14005

9,441 View
65 Download
2 Citations

Abstract PDF

Intracranial dermoids may gradually reach an enormous size before the onset of symptoms. Common clinical presentations of intracranial epidermoid include headache and seizures. We present a case of a 35-year female patient with giant middle fossa epidermoid that presented with Holmes’ tremor syndrome, and we review the relevant literature. To the best of our knowledge, such a presentation has not previously been described in the literature.

Citations

Citations to this article as recorded by

Holmes tremor
Gabriela B. Raina, Maria G. Cersosimo, Silvia S. Folgar, Juan C. Giugni, Cristian Calandra, Juan P. Paviolo, Veronica A. Tkachuk, Carlos Zuñiga Ramirez, Andrea L. Tschopp, Daniela S. Calvo, Luis A. Pellene, Marcela C. Uribe Roca, Miriam Velez, Rolando J.
Neurology.2016; 86(10): 931. CrossRef
Movement Disorders Following Cerebrovascular Lesions: Etiology, Treatment Options and Prognosis
Do-Young Kwon
Journal of Movement Disorders.2016; 9(2): 63. CrossRef

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