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25 "Pramod Kumar Pal"
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Neurological Perspectives Should Be Integrated Into the Management of Tardive Dyskinesia—Expert Opinions and Proposed Educational Initiatives in Asia
Roongroj Bhidayasiri, Onanong Phokaewvarangkul, Thien Thien Lim, Pramod Kumar Pal, Hirohisa Watanabe, Jin Whan Cho, Hui-Fang Shang
Received March 17, 2024  Accepted April 11, 2024  Published online April 11, 2024  
DOI: https://doi.org/10.14802/jmd.24068    [Epub ahead of print]
  • 1,030 View
  • 72 Download
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Letters to the editor
Haloperidol in Managing DYT-TOR1A Dystonia: Unveiling a Dramatic Therapeutic Response
Pavankumar Katragadda, Vikram V. Holla, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal
Received February 3, 2024  Accepted April 5, 2024  Published online April 9, 2024  
DOI: https://doi.org/10.14802/jmd.24029    [Epub ahead of print]
  • 474 View
  • 39 Download
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Knowledge, Attitudes and Perceptions of Genetic Testing Among Patients With Movement Disorders, Their Caregivers and Health Care Professionals
Sneha D. Kamath, Vikram V. Holla, Nitish Kamble, Rohan R. Mahale, Ravi Yadav, Pramod Kumar Pal
Received February 10, 2024  Accepted March 27, 2024  Published online March 27, 2024  
DOI: https://doi.org/10.14802/jmd.24034    [Epub ahead of print]
  • 419 View
  • 27 Download
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Impact of Deep Brain Stimulation on Non-Motor Symptoms in Parkinson’s Disease
Tanaya Mishra, Nitish Kamble, Amitabh Bhattacharya, Ravi Yadav, Dwarakanath Srinivas, Pramod Kumar Pal
J Mov Disord. 2024;17(2):245-247.   Published online March 13, 2024
DOI: https://doi.org/10.14802/jmd.23247
  • 779 View
  • 50 Download
PDFSupplementary Material
Genetically Proven Ataxia With Vitamin E Deficiency With Predominant Cervicobrachial Dystonic Presentation: A Case Report From India
Vikram V. Holla, Sandeep Gurram, Sneha D. Kamath, Gautham Arunachal, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal
J Mov Disord. 2024;17(2):220-222.   Published online December 18, 2023
DOI: https://doi.org/10.14802/jmd.23227
  • 1,053 View
  • 57 Download
PDFSupplementary Material
“Face of the Giant Panda” Sign and Bilateral Thalamic Hyperintensity in Isoniazid-Induced Ataxia
Vikram V. Holla, Manjunath Netravathi, Nitish Kamble, Jitender Saini, Pramod Kumar Pal
J Mov Disord. 2024;17(1):99-101.   Published online August 2, 2023
DOI: https://doi.org/10.14802/jmd.23112
  • 1,266 View
  • 123 Download
PDFSupplementary Material
Dystonic Opisthotonus in Kufor-Rakeb Syndrome: Expanding the Phenotypic and Genotypic Spectrum
Sandeep Gurram, Vikram V Holla, Riyanka Kumari, Debjyoti Dhar, Nitish Kamble, Ravi Yadav, Babylakshmi Muthusamy, Pramod Kumar Pal
J Mov Disord. 2023;16(3):343-346.   Published online July 25, 2023
DOI: https://doi.org/10.14802/jmd.23098
  • 1,358 View
  • 89 Download
  • 1 Web of Science
  • 1 Crossref
PDFSupplementary Material

Citations

Citations to this article as recorded by  
  • Estimation of Ambulation and Survival in Neurodegeneration with Brain Iron Accumulation Disorders
    Elahe Amini, Mohammad Rohani, Anthony E. Lang, Zahra Azad, Seyed Amir Hassan Habibi, Afagh Alavi, Gholamali Shahidi, Maziar Emamikhah, Ahmad Chitsaz
    Movement Disorders Clinical Practice.2024; 11(1): 53.     CrossRef
Review Article
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
  • 3,433 View
  • 245 Download
AbstractAbstract PDFSupplementary 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.
Original Article
KMT2B-Related Dystonia in Indian Patients With Literature Review and Emphasis on Asian Cohort
Debjyoti Dhar, Vikram V Holla, Riyanka Kumari, Neeharika Sriram, Jitender Saini, Ravi Yadav, Akhilesh Pandey, Nitish Kamble, Babylakshmi Muthusamy, Pramod Kumar Pal
J Mov Disord. 2023;16(3):285-294.   Published online June 13, 2023
DOI: https://doi.org/10.14802/jmd.23035
  • 3,144 View
  • 180 Download
  • 1 Web of Science
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AbstractAbstract PDFSupplementary Material
Objective
aaMutations in the KMT2B gene have been identified in patients previously diagnosed with idiopathic dystonia. Literature on KMT2B-related dystonia is sparse in the Indian and Asian populations.
Methods
aaWe report seven patients with KMT2B-related dystonia studied prospectively from May 2021 to September 2022. Patients underwent deep clinical phenotyping and genetic testing by whole-exome sequencing (WES). A systematic literature search was performed to identify the spectrum of previously published KMT2B-related disorders in the Asian subcontinent.
Results
aaThe seven identified patients with KMT2B-related dystonia had a median age at onset of four years. The majority experienced onset in the lower limbs (n = 5, 71.4%), with generalization at a median duration of 2 years. All patients except one had complex phenotypes manifesting as facial dysmorphism (n = 4), microcephaly (n = 3), developmental delay (n = 3), and short stature (n = 1). Magnetic resonance imaging (MRI) abnormalities were present in four cases. WES revealed novel mutations in the KMT2B gene in all patients except one. Compared to the largest cohort of patients with KMT2B-related disorders, the Asian cohort, comprising 42 patients, had a lower prevalence of female patients, facial dysmorphism, microcephaly, intellectual disability, and MRI abnormalities. Protein-truncating variants were more prevalent than missense variants. While microcephaly and short stature were more common in patients with missense mutations, facial dysmorphism was more common in patients with truncating variants. Deep brain stimulation, performed in 17 patients, had satisfactory outcomes.
Conclusion
aaThis is the largest series of patients with KMT2B-related disorders from India, further expanding the clinico-genotypic spectrum. The extended Asian cohort emphasizes the unique attributes of this part of the world.

Citations

Citations to this article as recorded by  
  • Clinical and genetic profile of patients with dystonia: An experience from a tertiary neurology center from India
    Debjyoti Dhar, Vikram V. Holla, Riyanka Kumari, Ravi Yadav, Nitish Kamble, Babylakshmi Muthusamy, Pramod Kumar Pal
    Parkinsonism & Related Disorders.2024; 120: 105986.     CrossRef
Review Article
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
  • 2,450 View
  • 134 Download
  • 1 Web of Science
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AbstractAbstract PDFSupplementary 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.

Citations

Citations to this article as recorded by  
  • Diabetic striatopathy and other acute onset de novo movement disorders in hyperglycemia
    Subhankar Chatterjee, Ritwik Ghosh, Payel Biswas, Shambaditya Das, Samya Sengupta, Souvik Dubey, Biman Kanti Ray, Alak Pandit, Julián Benito-León, Rana Bhattacharjee
    Diabetes & Metabolic Syndrome: Clinical Research & Reviews.2024; 18(3): 102997.     CrossRef
Letter to the editor
Myoclonus-Dystonic Presentation of Childhood Onset DYT-GCH1: A Report From India
Praveen Sharma, Vikram V Holla, Sandeep Gurram, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal
J Mov Disord. 2023;16(1):101-103.   Published online January 12, 2023
DOI: https://doi.org/10.14802/jmd.22106
  • 1,685 View
  • 62 Download
  • 2 Web of Science
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PDFSupplementary Material

Citations

Citations to this article as recorded by  
  • Myoclonus: an update
    Betsy Thomas, Steven J. Frucht
    Current Opinion in Neurology.2024;[Epub]     CrossRef
  • A Genetics Pearl for Counseling Patients with Epsilon-Sarcoglycan Myoclonus-Dystonia
    Alissa S. Higinbotham, Suzanne D. DeBrosse, Camilla W. Kilbane
    Tremor and Other Hyperkinetic Movements.2023;[Epub]     CrossRef
Review Articles
Movement Disorders Associated With Radiotherapy and Surgical Procedures
Bharath Kumar Surisetti, Shweta Prasad, Vikram Venkappayya Holla, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal
J Mov Disord. 2023;16(1):42-51.   Published online January 12, 2023
DOI: https://doi.org/10.14802/jmd.22092
  • 2,738 View
  • 152 Download
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AbstractAbstract PDF
Occasionally, movement disorders can occur following interventional procedures including but not limited to radiotherapy, dental procedures, and cardiac, cerebral and spinal surgeries. The majority of these disorders tend to be unexpected sequelae with variable phenomenology and latency, and they can often be far more disabling than the primary disease for which the procedure was performed. Owing to poor knowledge and awareness of the problem, delays in diagnosing the condition are common, as are misdiagnoses as functional movement disorders. This narrative review discusses the phenomenology, pathophysiology, and potential treatments of various movement disorders caused by interventional procedures such as radiotherapy and neurological and non-neurological surgeries and procedures.

Citations

Citations to this article as recorded by  
  • Biofeedback Endurance Training for Gait Rehabilitation in Parkinson’s Disease: a Non-Randomized Controlled Study
    Olga V. Guseva, Natalia G. Zhukova
    Bulletin of Rehabilitation Medicine.2024; 22(6): 21.     CrossRef
  • Myoclonus: an update
    Betsy Thomas, Steven J. Frucht
    Current Opinion in Neurology.2024; 37(4): 421.     CrossRef
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
  • 6,327 View
  • 516 Download
  • 3 Web of Science
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AbstractAbstract 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.

Citations

Citations to this article as recorded by  
  • Genetic Testing of Movements Disorders: A Review of Clinical Utility
    Dennis Yeow, Laura I. Rudaks, Sue-Faye Siow, Ryan L. Davis, Kishore R. Kumar
    Tremor and Other Hyperkinetic Movements.2024;[Epub]     CrossRef
  • Genetically Proven Ataxia With Vitamin E Deficiency With Predominant Cervicobrachial Dystonic Presentation: A Case Report From India
    Vikram V. Holla, Sandeep Gurram, Sneha D. Kamath, Gautham Arunachal, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal
    Journal of Movement Disorders.2024; 17(2): 220.     CrossRef
  • Rehabilitation in ataxia
    Anupam Gupta, NavinB Prakash, Hafis Rahman
    Indian Journal of Physical Medicine & Rehabilitation.2023; 33(1): 21.     CrossRef
Brief communications
Utility of Clinical Exome Sequencing in Dystonia: A Single-Center Study From India
Vikram Venkappayya Holla, Koti Neeraja, Albert Stezin, Shweta Prasad, Bharat Kumar Surisetti, Manjunath Netravathi, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal
J Mov Disord. 2022;15(2):156-161.   Published online March 16, 2022
DOI: https://doi.org/10.14802/jmd.21146
  • 2,868 View
  • 162 Download
  • 2 Web of Science
  • 2 Crossref
AbstractAbstract PDFSupplementary Material
Objective
With the use of next-generation sequencing in clinical practice, several genetic etiologies of dystonia have been identified. This study aimed to ascertain the utility of clinical exome sequencing (CES) in dystonia and factors suggestive of a genetic etiology.
Methods
This study was a retrospective chart review of patients with dystonia who had undergone CES for the evaluation of dystonia.
Results
Forty-eight patients (35 males, 46 families) with dystonia were studied, with a mean age at onset of 16.0 ± 14.1 (1–58) years. A pathogenic/likely pathogenic variant was found in 20 patients (41.7%) among which 14 patients (29.2%) carried a novel variant. CES was more likely to detect a genetic diagnosis in patients with an early age at onset, i.e., ≤ 20 years.
Conclusion
CES is a useful tool in the diagnostic evaluation of dystonia, with a yield of close to 40%. Patients with an earlier age at onset have a higher likelihood of having dystonia due to a genetic cause than those with a later age at onset.

Citations

Citations to this article as recorded by  
  • Dissecting genetic architecture of rare dystonia: genetic, molecular and clinical insights
    Burcu Atasu, Javier Simón-Sánchez, Hasmet Hanagasi, Basar Bilgic, Ann-Kathrin Hauser, Gamze Guven, Peter Heutink, Thomas Gasser, Ebba Lohmann
    Journal of Medical Genetics.2024; : jmg-2022-109099.     CrossRef
  • Whole exome sequencing and clinical investigation of young onset dystonia: What can we learn?
    Jong Hyeon Ahn, Ah Reum Kim, Woong-Yang Park, Jin Whan Cho, Jongkyu Park, Jinyoung Youn
    Parkinsonism & Related Disorders.2023; 115: 105814.     CrossRef
Long-Term Outcome of Hemimasticatory Spasm
Somdattaa Ray, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal
J Mov Disord. 2022;15(2):146-150.   Published online March 16, 2022
DOI: https://doi.org/10.14802/jmd.21067
  • 2,921 View
  • 167 Download
  • 3 Web of Science
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AbstractAbstract PDFSupplementary Material
Objective
This study aims to identify the demographic, clinical, and therapeutic characteristics of four patients with hemimasticatory spasm (HMS) seen in our outpatient department over a period of 20 years.
Methods
We performed a retrospective chart review of four patients with HMS who visited outpatient services in the Department of Neurology from 2001 to 2020.
Results
The follow-up for all patients ranged from 2 years to 9 years. Three patients had facial or bucco-oral morphea. Two patients maintained long-term improvements in symptoms after being treated with botulinum toxin for 4–7 years, while one patient reported improvement in symptoms with treatment of carbamazepine that subsequently remitted after pregnancy.
Conclusion
This report highlights the long-term outcome of HMS in our patients. Our patients reported a significant reduction or complete resolution of symptoms after treatment, and eventually, two patients were asymptomatic while off treatment.

Citations

Citations to this article as recorded by  
  • Hemimasticatory spasm: a series of 17 cases and a comprehensive review of the literature
    Kazuya Yoshida
    Frontiers in Neurology.2024;[Epub]     CrossRef
  • Hemimasticatory Spasm Treated With Muscle Afferent Block Therapy and Occlusal Splint
    Kazuya Yoshida
    Journal of Movement Disorders.2024; 17(2): 230.     CrossRef
  • Peripherally-induced Movement Disorders: An Update
    Abhishek Lenka, Joseph Jankovic
    Tremor and Other Hyperkinetic Movements.2023;[Epub]     CrossRef

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