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17 "Ravi Yadav"
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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    [Accepted]
  • 264 View
  • 22 Download
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Knowledge, attitude and perception of genetic testing in patients with movement disorders, their caregivers and health care professionals
Sneha 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    [Accepted]
  • 282 View
  • 15 Download
PDF
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
  • 491 View
  • 30 Download
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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
  • 622 View
  • 43 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
  • 1,060 View
  • 88 Download
  • 1 Web of Science
  • 1 Crossref
PDFSupplementary Material

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  • 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
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
  • 2,561 View
  • 169 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.

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  • 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
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
  • 1,354 View
  • 61 Download
  • 1 Web of Science
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PDFSupplementary Material

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  • 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 Article
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
  • 2,354 View
  • 144 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

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  • 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
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
  • 2,518 View
  • 156 Download
  • 2 Web of Science
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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

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  • 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
  • 2,639 View
  • 162 Download
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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
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
  • 4,018 View
  • 115 Download
  • 5 Web of Science
  • 3 Crossref
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.

Citations

Citations to this article as recorded by  
  • 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
Phonatory Characteristics of Male Patients with Classic Essential Tremor
Preetie Shetty Akkunje, Belur Keshavaprasad Yamini, Ravi Yadav, Nagarajarao Shivashankar, Palash Kumar Malo, Kandavel Thennarasu, Shantala Hegde, Pramod Kumar Pal
J Mov Disord. 2021;14(3):226-230.   Published online August 18, 2021
DOI: https://doi.org/10.14802/jmd.21010
  • 3,613 View
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AbstractAbstract PDFSupplementary Material
Objective
Voice tremor (VT) is one of the characteristics of essential tremor (ET). This study was designed to describe the group and phonatory characteristics of classic ET patients with VT.
Methods
This retrospective case-control study compared classic ET patients with age and sex-matched controls. The ET population was subgrouped based on auditory perceptual voice analysis. Electroglottography and acoustic voice samples obtained from both groups were analyzed for contact quotient (CQ) and multidimensional voice program parameters, i.e., fundamental frequency (F0), perturbation, noise, and tremor parameters.
Results
The CQ, F0, perturbation, noise, and tremor characteristics significantly increased from the moderate VT group to the severe VT group.
Conclusion
The CQ, F0, and noise characteristics reflected the vocal folds’ functionality. The perturbation and tremor parameters variation were reasoned considering the tremor-related changes occurring in the laryngeal, vocal tract, and expiratory muscles in patients with ET. Thus, phonatory analysis may help in monitoring the progression of ET.

Citations

Citations to this article as recorded by  
  • Voice Analysis in Patients with Essential Tremor
    Hakan Silek, Muzeyyen Dogan
    Journal of Voice.2023;[Epub]     CrossRef
Original Article
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
  • 4,525 View
  • 96 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.
Case Report
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
  • 4,832 View
  • 144 Download
  • 1 Web of Science
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AbstractAbstract PDFSupplementary Material
Sialidosis is an inborn error of metabolism due to a defect in the NEU1 gene and manifests as two phenotypes: mild type I and severe type II. The cherry red spot (CRS) is a characteristic feature in both types of sialidosis; reports of sialidosis without a CRS are rare. We report two cases of genetically confirmed sialidosis type I with a typical presentation of progressive cortical myoclonus and ataxia but without the CRS. A previously reported homozygous pathogenic variant p.Arg294Cys was detected in the first case, and a novel homozygous pathogenic variant p.Arg305Pro was detected in the second case. Additionally, we reviewed the literature describing cases with similar mutations to find a genetic basis for the absence of a CRS. Milder mutation of both alleles detected in both patients may be the reason for the absence of a CRS.

Citations

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  • A fuzzy rule based machine intelligence model for cherry red spot disease detection of human eyes in IoMT
    Kalyan Kumar Jena, Sourav Kumar Bhoi, Debasis Mohapatra, Chittaranjan Mallick, Kshira Sagar Sahoo, Anand Nayyar
    Wireless Networks.2023; 29(1): 247.     CrossRef
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
  • 5,503 View
  • 136 Download
  • 5 Web of Science
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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  
  • Know DBS: patient perceptions and knowledge of deep brain stimulation in Parkinson’s disease
    Meagen Salinas, Umar Yazdani, Austin Oblack, Bradley McDaniels, Nida Ahmed, Bilal Haque, Nader Pouratian, Shilpa Chitnis
    Therapeutic Advances in Neurological Disorders.2024;[Epub]     CrossRef
  • Assessment of Knowledge and Perception Regarding Deep Brain Stimulation Among Medical Students in Saudi Arabia
    Sarah S Aldharman, Fadi A Munhish, Haila A Alabssi, Maryam A Alamer, Fay A Althunayyan, Majidah H Halawi, Shireen H Elfaham, Taghreed A Alsinani, Saud A Alnaaim
    Cureus.2023;[Epub]     CrossRef
  • Deep Brain Stimulation for Parkinson's Disease‐the Developing World's Perspective
    Khushboo Patel, Divya Kalikavil Puthanveedu, Asish Vijayaraghavan, Krishnakumar Kesavapisharady, Gangadhara Sarma, Sankara P. Sarma, Syam Krishnan
    Movement Disorders Clinical Practice.2023; 10(12): 1750.     CrossRef
  • How Parkinson’s patients in the USA perceive deep brain stimulation in the 21st century: Results of a nationwide survey
    Daniel Alfonso, Laura Y. Cabrera, Christos Sidiropoulos, Fei Wang, Harini Sarva
    Journal of Clinical Neuroscience.2022; 95: 20.     CrossRef
  • Caregiver Burden in Partners of Parkinsonian Patients with Deep Brain Stimulation
    Eileen Gülke, Monika Pötter-Nerger
    Brain Sciences.2022; 12(2): 238.     CrossRef

JMD : Journal of Movement Disorders