Journal of Movement Disorders

Brief communication

Clinical, Radiological and Therapeutic Profile of Patients With DYT-TOR1A from a single tertiary care centre in India, with a literature review of the MDSGene Asian cohort: MK Farsana, Vikram V Holla, Debjyoti Dhar, Nishanth Gowda, Hansashree Padmanabha, Babylakshmi Muthusamy, Nitish Kamble, Dwarakanath Srinivas, Ravi Yadav, Pramod Kumar Pal; Received September 22, 2025 Accepted December 17, 2025 Published online December 17, 2025; DOI: https://doi.org/10.14802/jmd.25256 [Accepted]

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Abstract PDF: Objective
This study aims to characterize the phenotypic spectrum and therapeutic outcome of patients with DYT-TOR1A of Indian and Asian origin.
Methods
A retrospective chart review of patients with genetically confirmed DYT-TOR1A (c.907_909delGAG;p.Glu303del variant) from a tertiary care centre in India.
Results
12 patients (11 males, 91.7%) were recruited with a median age at onset of 10.5 years (8-17years) and duration of five years (2months - 31years). All had an isolated and progressive dystonia phenotype. Eight patients (66.7%) had onset in childhood, and limb-onset was noted in 10 (83.3%) patients. Five patients (41.7%) underwent bilateral GPi-DBS within a median duration of 4 years (2.5–6.5 years) from the onset with significant improvement.
Conclusion
This Indian patient cohort shows a strong male predominance and a consistent early involvement of the upper limbs. A shorter duration of illness with greater severity highlights the need for early recognition and potential surgical intervention.

Letters to the editor

CLCN2-Related Leukoencephalopathy Presenting as Isolated Paroxysmal Non-Kinesigenic Dyskinesia: Clinical, Imaging, and Genetic Correlation: Subhajit Roy, Ravindranadh Chowdary Mundlamuri, Seena Vengalil, Pritam Raja, Nalini Atchayaram, Ravi Yadav; Received October 5, 2025 Accepted December 1, 2025 Published online December 1, 2025; DOI: https://doi.org/10.14802/jmd.25268 [Accepted]

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Congenital ataxic phenotype of ITPR1-related disorder due to novel missense variants – A video case series: Vikram V Holla, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal; Received August 14, 2025 Accepted November 7, 2025 Published online November 14, 2025; DOI: https://doi.org/10.14802/jmd.25216 [Accepted]

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The Landscape of Parkinson’s Disease Treatment in India: A National Cross-Sectional Survey of Clinical Practitioners: Roopa Rajan, Hrishikesh Kumar, Divya M. Radhakrishnan, Divyani Garg, Shreyashi Jha, Jacky Ganguly, Sreenivas U. Meenakshisundaram, Niraj Kumar, Vikram V. Holla, Soaham Desai, Ravi Yadav, Achal Kumar Srivastava, Asha Kishore, Pramod Kumar Pal; Received July 27, 2025 Accepted September 11, 2025 Published online September 11, 2025; DOI: https://doi.org/10.14802/jmd.25201 [Epub ahead of print]

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Surgicogenomics in Genetic Parkinson’s Disease: A Single-Center Experience From a Tertiary Care Center: Debjyoti Dhar, Vikram Venkappayya Holla, Sneha Dayanand Kamath, Nitish Kamble, Dwarakanath Srinivas, Ravi Yadav, Pramod Kumar Pal; Received April 13, 2025 Accepted September 11, 2025 Published online September 11, 2025; DOI: https://doi.org/10.14802/jmd.25095 [Epub ahead of print]

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Revisiting the Triglyceride–Glucose Index in Parkinson’s Disease: Risk Ractor or Disease Marker?: Shweta Prasad, Tarunya Nagaraj, Shubha GS Bhat, Mahima Bhardwaj, Pooja Mailankody, Rohan R Mahale, Nitish Kamble, Vikram Venkappayya Holla, Ravi Yadav, Pramod Kumar Pal; J Mov Disord. 2025;18(4):389-392. Published online August 25, 2025; DOI: https://doi.org/10.14802/jmd.25222

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Original Article

Clinical Profile and Genetic Composition of Patients With Juvenile Parkinsonism From a Single Tertiary Care Center in India: Madathum Kuzhiyil Farsana, Vikram V Holla, Prashant Phulpagar, Nitish Kamble, Babylakshmi Muthusamy, Ravi Yadav, Pramod Kumar Pal; Received May 13, 2025 Accepted August 18, 2025 Published online August 19, 2025; DOI: https://doi.org/10.14802/jmd.25132 [Epub ahead of print]

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Abstract PDF: Objective
Studies outlining the genetic architecture of Parkinson’s disease in India are sparse, and juvenile parkinsonism is underrepresented in the literature. The objective was to study the clinical, therapeutic, and genetic profiles of patients with juvenile parkinsonism and to correlate their phenotypic–genotypic characteristics.
Methods
This retrospective chart review was conducted in patients with suspected genetically mediated juvenile parkinsonism (onset ≤21 years) who underwent genetic testing at a tertiary care center in India from 2015–2024. The available phenotypic–genotypic characteristics were evaluated and compared between Gene (+) and Gene (-) patients.
Results
Forty patients (22 males, 55.0%) with juvenile parkinsonism were included, with mean ages at onset and presentation of 15.85±4.96 years and 26.37±10.11 years, respectively. The mean duration of illness was 10.43±10.49 years. A positive family history was present in 40.0% of the participants, and consanguinity was present in 45%. Bradykinesia was the most common motor symptom (95.0%), and cognitive impairment was the most common nonmotor symptom (17.5%). Pathogenic/likely pathogenic variants were identified in 27 patients (67.5%), with variants in PRKN being the most common (n=8 patients), followed by those in PLA2G6 (n=7 patients). Gene (+) patients had significantly more severe disease with a better levodopa response and more frequent familial consanguinity, oculomotor abnormalities, motor fluctuations, and dyskinesia. Compared with PARK-PRKN patients, PARK-PLA2G6 patients had significantly more dystonia, gaze restriction, and pyramidal signs and more severe disease at presentation, with a lower levodopa equivalent daily dose and fewer motor fluctuations.
Conclusion
More than two-thirds (67.5%) of the juvenile parkinsonism patients in our cohort had an underlying monogenic cause. PARK-PRKN, PARK-PLA2G6, and PARK-SYNJ1 are the common causes of genetically mediated juvenile parkinsonism in India.

Letters to the editor

Anti-IgLON5-Related Movement Disorders: A Series of Three Cases from a Tertiary Centre in India: Shivani Rath, Puthiyarambath Arjun Chandrashekar, Aravind Gunasekaran, Vikram Venkappayya Holla, Nitish Kamble, Pramod Kumar Pal, Ravi Yadav; J Mov Disord. 2025;18(4):385-388. Published online August 11, 2025; DOI: https://doi.org/10.14802/jmd.25121

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Rescue Right Pallidotomy and Left Thalamotomy in a Patient With PLA2G6-Associated Refractory Status Dystonicus and Tremor: Madathum Kuzhiyil Farsana, Vikram Venkappayya Holla, Swathy Surendran Nair, Nitish Kamble, Pramod Kumar Pal, Dwarakanath Srinivas, Ravi Yadav; Received April 28, 2025 Accepted August 9, 2025 Published online August 9, 2025; DOI: https://doi.org/10.14802/jmd.25114 [Epub ahead of print]

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Delayed Presentation of Diencephalic-Mesencephalic Junction Dysplasia With Compulsive Truncal Movements and Blepharospasm: A Case Report From India: Pavankumar Katragadda, Gorantla Padmasri, Karthik Kulanthaivelu, Ravi Yadav; Received June 28, 2025 Accepted August 4, 2025 Published online August 5, 2025; DOI: https://doi.org/10.14802/jmd.25167 [Epub ahead of print]

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Viewpoint

Diagnostic Spectrum in an “Atypical” Atypical Parkinsonism Syndrome Cohort: A Single Center Experience: Pavankumar Katragadda, Vikram V Holla, Nitish Kamble, Rohan R Mahale, Ravi Yadav, Pramod Kumar Pal; J Mov Disord. 2025;18(3):208-212. Published online May 7, 2025; DOI: https://doi.org/10.14802/jmd.25021

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Letters to the editor

The Burden of Rheumatic Chorea in the Modern Era: A Case Series From a Tertiary Health Care Center in South India: Madathum Kuzhiyil Farsana, Vikram V Holla, Nitish Kamble, Rohan R Mahale, Faheem Arshad, Pramod Kumar Pal, Ravi Yadav; J Mov Disord. 2025;18(3):277-279. Published online April 22, 2025; DOI: https://doi.org/10.14802/jmd.25018

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Rheumatic Chorea Without Cardiac Involvement in a 10-Year-Old Girl from a Remote Area: Diagnostic and Management Challenges
Violita Iwamony, Nyoman Kristianti
American Journal of Pediatrics.2025; 11(4): 201. CrossRef

Two Cases of Genetically Proven SCARB2-Related Progressive Myoclonic Epilepsy Without Renal Failure: A Report From India: Pavankumar Katragadda, Vikram V Holla, Gautham Arunachal, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal; J Mov Disord. 2025;18(2):175-178. Published online December 27, 2024; DOI: https://doi.org/10.14802/jmd.24222

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Original Article

Polysomnographic Evaluation of Sleep Disorders in Essential Tremor and Essential Tremor Plus: A Comparison With Healthy Controls: Ravi Prakash Singh, Mythirayee S, Doniparthi Venkata Seshagiri, Gulshan Kumar, Rohan Mohale, Pramod Kumar Pal, Bindu M Kutty, Jitender Saini, Nitish L Kamble, Vikram Holla, Ravi Yadav; J Mov Disord. 2025;18(1):45-54. Published online October 28, 2024; DOI: https://doi.org/10.14802/jmd.24191

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Abstract PDF: Objective
To explore sleep patterns in individuals with essential tremor (ET) and essential tremor plus (ET-Plus) compared with healthy controls and assess differences between ET and ET-Plus, given the lack of established polysomnography (PSG) data on these groups and the potential for sleep disturbances to serve as clinical markers.
Methods
We conducted a prospective cross-sectional study at National Institute of Mental Health and Neurosciences, Bengaluru, from November 2021 to August 2023 on 45 patients (26 ET, 19 ET-Plus) and 45 controls. Tremor severity was assessed using The Essential Tremor Rating Assessment Scale (TETRAS) and Fahn‐Tolosa‐Marin Clinical Rating Scale (FTMRS). Sleep symptoms were assessed via the Epworth Sleepiness Scale, Pittsburgh Sleep Quality Index, Mayo Sleep Questionnaire, restless legs syndrome questionnaire, Berlin questionnaire, Generalized Anxiety Disorder Scale 7, and Patient Health Questionnaire-9. All patients and controls underwent overnight video PSG. Sleep scoring was manually performed by a trained sleep research technician and the first author following the American Academy of Sleep Medicine (2017) guidelines, with data analyzed using R studio.
Results
Compared with ET-Plus patients, ET patients had a younger onset age (46.8±11.1 years versus 30.8±16.7 years, respectively). Compared with ET patients, ET-Plus patients had higher TETRAS and FTMRS scores (p<0.005). Compared with controls, both ET patients and ET-Plus patients presented poorer sleep quality, excessive daytime sleepiness, rapid eye movement (REM) sleep behavior disorder, and restless legs syndrome symptoms. PSG findings supported these clinical observations, showing an elevated apnea‒hypopnea index, reduced total sleep time, prolonged REM latency, decreased sleep efficiency, increased N1 stage duration, and reduced N2/N3 durations and percentages in patients versus controls.
Conclusion
The study highlights significant sleep architecture abnormalities in both ET and ET-Plus patients compared with healthy controls, with no differences between the ET groups.

Brief communications

Clinico-Genetic Profiles of Seven Patients With PINK1-Related Parkinson’s Disease: A Case Series From a Tertiary Care Centre in India and a Review of the Literature: Aravind Gunasekaran, Vikram V Holla, Prashant Phulpagar, Sneha D Kamath, Nitish Kamble, Ravi Yadav, Babylakshmi Muthusamy, Pramod Kumar Pal; J Mov Disord. 2024;17(4):436-441. Published online September 19, 2024; DOI: https://doi.org/10.14802/jmd.24157

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Abstract PDF Supplementary Material

Objective
Recessive variants in the PINK1 gene are known causes of early-onset Parkinson’s disease (EOPD). To describe the clinical features and genetic profiles of patients with PINK1-related Parkinson’s disease (PARK-PINK1) mutations.
Methods
We conducted a retrospective chart review of the demographic, clinical and genetic details of patients from our database carrying biallelic PINK1 variants.
Results
A total of 7 patients whose median age at onset was 33 years (range: 20–49) were recruited. All had asymmetrical onset, tremors were present in 4 patients, abnormal posturing was present in 2 patients, and slowness was present in 1 patient. The parkinsonism phenotype was noted in 6 patients (with dystonia in four) and isolated dystonia in one. Among the 6 patients with parkinsonism, five had rest tremors, all had good levodopa responses, and four had motor fluctuations with choreiform dyskinesia. Exome sequencing revealed biallelic pathogenic/likely pathogenic variants, five of which were novel.
Conclusion
PARK-PINK1 presents as an EOPD with tremor-predominant phenotype, good levodopa-responsiveness, early motor fluctuation and dyskinesia. We describe five novel variants in PINK1 gene.

Citations

Citations to this article as recorded by

Genetic Sketch of Parkinson’s Disease in India
Suvorit S Bhowmick, Soaham D Desai
Annals of Indian Academy of Neurology.2025; 28(4): 495. CrossRef

Journey Through Autosomal-Recessive Spastic Ataxia of Charlevoix–Saguenay: Insights From a Case Series of Seven Patients–A Single-Center Study and Review of an Indian Cohort: Mit Ankur Raval, Vikram V Holla, Nitish Kamble, Gautham Arunachal, Babylakshmi Muthusamy, Jitender Saini, Ravi Yadav, Pramod Kumar Pal; J Mov Disord. 2024;17(4):430-435. Published online August 29, 2024; DOI: https://doi.org/10.14802/jmd.24154

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Abstract PDF Supplementary Material: Objective
In this study, we describe the clinical and investigative profiles of 7 cases of autosomal-recessive spastic ataxia of Charlevoix–Saguenay (ARSACS).
Methods
We performed a retrospective chart review of genetically proven cases of ARSACS from our database. Additionally, we reviewed the literature for reported cases of ARSACS from India.
Results
All 7 patients experienced disease onset within the first decade of life. According to the available data, all patients had walking difficulty (7/7), spastic ataxia (7/7), classical neuroimaging findings (7/7), sensory‒motor demyelinating polyneuropathy (6/6), abnormal evoked potentials (5/5), and a thickened retinal nerve fiber layer (3/3). Exome sequencing revealed 8 unique pathogenic/likely pathogenic variants (6 novel) in the SACS gene. An additional 21 cases (18 families) of ARSACS that could be identified from India had similar clinical and investigational findings. The most common c.8793delA variant may have a founder effect.
Conclusion
Our series adds to the previously reported cases of ARSACS from India and expands the genetic spectrum by adding 6 novel variants.

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; J Mov Disord. 2024;17(3):342-344. Published online April 9, 2024; DOI: https://doi.org/10.14802/jmd.24029

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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; J Mov Disord. 2024;17(3):336-338. Published online March 27, 2024; DOI: https://doi.org/10.14802/jmd.24034

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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

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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

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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

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Citations

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Kufor-Rakeb syndrome: a cohort-based clinical, imaging and genetic profile
Subhajit Roy, Rohan R. Mahale
Neurological Sciences.2026;[Epub] CrossRef
Pediatric Genetic Dystonias: Current Diagnostic Approaches and Treatment Options
Graziana Ceraolo, Giulia Spoto, Carla Consoli, Elena Modafferi, Gabriella Di Rosa, Antonio Gennaro Nicotera
Life.2025; 15(7): 992. CrossRef
Case Report: Novel ATP13A2 pathogenic variants associated with early-onset parkinsonism and a mini-review
Leonardo Affronte, Antonella Pini, Claudia Pizzoli, Emanuele Coccia, Serena Mazzone, Arber Golemi, Melania Giannotta, Duccio Maria Cordelli, Valerio Carelli, Alessandro Vaisfeld, Flavia Palombo
Frontiers in Genetics.2025;[Epub] CrossRef
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

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Abstract PDF Supplementary 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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Novel heterozygous mutation in KMT2B causing an unusual phenotypic presentation: a comprehensive clinical and bioinformatic analysis
Farzaneh Iravani, Motahare Taghvaei, Fatemeh Sefid, Hosein Eslamiyeh
Molecular Biology Reports.2026;[Epub] CrossRef
Genetic Landscape of Dystonia in Asian Indians
Arti Saini, Inder Singh, Mukesh Kumar, Divya Madathiparambil Radhakrishnan, Ayush Agarwal, Divyani Garg, Arunmozhimaran Elavarasi, Rahul Singh, Vivek Chouhan, Sandeep, Anu Gupta, Venugopalan Yamuna Vishnu, Mamta Bhushan Singh, Rohit Bhatia, Ajay Garg, Ne
Movement Disorders Clinical Practice.2025; 12(5): 594. CrossRef
Clinical Presentation of KMT2B-Related Dystonia: A Case Report
Elizabeth Onoprishvili, Luka Khelaia, Ana Bedoshvili, Nana Nino Tatishvili, Sofia Tatishvili
Cureus.2025;[Epub] CrossRef
Episodic Choreo-Dystonic Storm in an Infantile-Onset Movement Disorder: Think of G Protein Subunit Alpha O1 Gene Defect!
Manas Saxena, T Ashok V Reddy, Kaniti Sowjanya, V Mounika Reddy, Niraj Kumar
Annals of Indian Academy of Neurology.2025; 28(6): 905. CrossRef
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
The clinical spectrum and pathogenesis associated with KMT2B variants in Chinese pediatric patients
Shuangjin Ding, Gang Xie, Zonglin Han, Yangming Wang, Ming Shi, Feng Zhai, Tinghong Liu, Zihang Xie, Weihua Zhang, Yun Wu, Xinying Yang, Anna Zhou, Fang Fang, Shuhong Ren, Shuli Liang, Huiqing Cao, Hui Xiong, Changhong Ding, Lifang Dai
Parkinsonism & Related Disorders.2024; 129: 107172. 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

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Citations

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Myoclonus: an update
Betsy Thomas, Steven J. Frucht
Current Opinion in Neurology.2024; 37(4): 421. 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 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

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Abstract 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.

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Delayed Holm’s tremor complicated by contralateral midbrain metastasis: A nigrostriatal subtype
Sang-Won Yoo, Hyochun Lee, Joong-Seok Kim
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Cancer-related movement disorders: A scoping review and diagnostic approach
Laura E Schroeder, Ethan Snow, Casandra Chen, Amy Addo, Nahid Mohammadzadeh, Lawrence Recht, Saud Alhusaini
Neuro-Oncology Practice.2025; 12(6): 970. CrossRef
Myoclonus: an update
Betsy Thomas, Steven J. Frucht
Current Opinion in Neurology.2024; 37(4): 421. CrossRef
Biofeedback Endurance Training for Gait Rehabilitation in Parkinson’s Disease: a Non-Randomized Controlled Study
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Bulletin of Rehabilitation Medicine.2023; 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

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Abstract PDF Supplementary 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

Genetic Landscape of Dystonia in Asian Indians
Arti Saini, Inder Singh, Mukesh Kumar, Divya Madathiparambil Radhakrishnan, Ayush Agarwal, Divyani Garg, Arunmozhimaran Elavarasi, Rahul Singh, Vivek Chouhan, Sandeep, Anu Gupta, Venugopalan Yamuna Vishnu, Mamta Bhushan Singh, Rohit Bhatia, Ajay Garg, Ne
Movement Disorders Clinical Practice.2025; 12(5): 594. CrossRef
Long‐Read Sequencing: The Third Generation of Diagnostic Testing for Dystonia
Thomas Wirth, Kishore R. Kumar, Michael Zech
Movement Disorders.2025; 40(6): 1009. CrossRef
Spectrum of Inherited Childhood‐Onset Dystonia: Case Series of 19 Families With Genotype and Phenotype Characterization Highlighting the Treatable Causes
Naik Adarsha, Arya Shambhavi, Haseena Sait, Amita Moirangthem, Deepti Saxena, Shubha R. Phadke
Clinical Genetics.2025; 108(4): 422. CrossRef
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; 61(5): 443. 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

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Abstract PDF Supplementary 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.

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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 in the stomatognathic system after oral surgical or dental procedures
Kazuya Yoshida
Oral and Maxillofacial Surgery.2024; 28(4): 1579. CrossRef
The progress in epidemiological, diagnosis and treatment of primary hemifacial spasm
Guangfa Xiang, Minghong Sui, Naifu Jiang, Rui Luo, Jianwei Xia, Xinling Wei, Yifeng Lin, Xingyu Li, Zixiang Cai, Junxia Lin, Shipei Li, Wanyi Chen, Yang Zhao, Lin Yang
Heliyon.2024; 10(19): e38600. 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

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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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A Novel Pathogenic Splicing Mutation of OFD1 is Responsible for a Boy with Joubert Syndrome Exhibiting Orofaciodigital Spectrum Anomalies, Polydactyly and Retinitis Pigmentosa
Liang Chen, Mei-Fang Zhao, Hui-Wen Deng, Min Liao, Liang-Liang Fan, Qi-Bao Zhong, Jun Wang, Ke Li, Zheng-Hui Wu, Jian-Yin Yin
Pharmacogenomics and Personalized Medicine.2025; Volume 18: 47. CrossRef
Phenotypic Spectrum of KATNIP-Associated Joubert Syndrome: Possible Association with Esophageal Atresia and Review of the Literature
Maria Giovanna Tedesco, Ilaria Donati, Chiara Romeo, Sara Dal Bo, Chiara Nardini, Anna Maria Innoceta, Giulia Parmeggiani, Anna Patanè, Claudio Graziano
Genes.2025; 16(5): 524. CrossRef
Joubert Sendromlu Hastanın Diş Tedavilerinde Anestezi Yönetimi: Olgu Sunumu
Mehmet Akif Yılmaz, Feyza Şimşek, Havva Yavuz, Nuray Uzun, Murat Büyüksefil, Fatih Şengül, Elif Oral Ahıskalıoğlu
Atatürk Üniversitesi Tıp Fakültesi Cerrahi Tıp Bilimleri Dergisi.2024; 3(1): 15. CrossRef
Joubert Syndrome Presenting With Levodopa-Responsive Parkinsonism
Jin Hwangbo, Ki-Seok Park, Hyun Sung Kim, Jae-Hwan Choi, Jae-Hyeok Lee
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Progressive Dysphagia in Joubert Syndrome: A Report of a Rare Case
Courteney Castellano, Jomaries O Gomez Rosado, Alexandra Witt, Rebecca Simon, Dyadin Esharif
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A Novel Homozygous Variant in CPLANE1 Gene in a Patient with Developmental Deficits
Bhagyalakshmi Shankarappa, Vishnu P. Prasad, Sujith Kumar, Ravi Shankar Rao, Angel Beula Royal, Mahadeva Swamy, Pannaga Prasad, Ashitha S. Niranjana Murthy, Suhas Ganesh, Biju Viswanath, Sanjeev Jain, Meera Purushottam, Murali Thyloth
Molecular Syndromology.2024; : 1. CrossRef
Novel PIBF1 Pathogenic Variant in Three Siblings with Joubert Syndrome Type 33
Busra Aynekin, Bahadır M. Samur, Ummu Gulsum Ozgul Gumus, Kaya Bilguvar, Ayten Gulec, Stephanie Efthymiou, Hakan Gumus, Ahmet Okay Caglayan, Huseyin Per
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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
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Bimal P. Chaudhari, Mai-Lan Ho
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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

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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

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Voice Analysis in Patients with Essential Tremor
Hakan Silek, Muzeyyen Dogan
Journal of Voice.2025; 39(5): 1414.e9. CrossRef
Central auditory processing deficits in essential tremor
Preetie Shetty Akkunje, Belur Keshavaprasad Yamini, Ravi Yadav, Shantala Hegde, Aravind Kumar Rajasekaran, Pradeep Yuvaraj, Prashasti Prakash Poovaiah, Parthipulli Vasuki Prathyusha, Kandavel Thennarasu, Nagarajarao Shivashankar, Pramod Kumar Pal
Clinical Neurophysiology.2025; 176: 2110764. CrossRef
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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

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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.

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Barriers to providing movement disorders care in India
Heli Shah, Prashanth Lingappa Kukkle
Current Opinion in Neurology.2025; 38(4): 361. CrossRef

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

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Abstract PDF Supplementary 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.

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Sialidosis type 1 in a Turkish family: a case report and review of literatures
Mustafa Kılıç, Suzan İcil, Abdullah Sezer, Öznur Kaya-Güneş, Selim S. Comoğlu
Journal of Pediatric Endocrinology and Metabolism.2025; 38(2): 176. CrossRef
Type 2 Sialidosis: A Rare Autosomal Recessive Condition in a 13‐Year‐Old Male: A Case Report
Kundan Kumar Yadav, Milan Pokhrel, Geeta Bashyal, Shankar Pokharel, Santoshi Pokharel Kunwar
Clinical Case Reports.2025;[Epub] CrossRef
A young woman with ataxia, seizures and myoclonus
Jayaram Saibaba, Saranya B Gomathy, Ramkumar Sugumaran, Sunil K Narayan
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Unique clinical and electrophysiological features in the peripheral nerve system in patients with sialidosis – a case series study
Sung-Ju Hsueh, Chin-Hsien Lin, Ni-Chung Lee, Tung-Ming Chang, Sung-Pin Fan, Wan-De Huang, Yea-Huey Lin, Li-Kai Tsai, Yin-Hsiu Chien, Ming-Jen Lee, Wuh-Liang Hwu, Hsueh Wen Hsueh, Chih-Chao Yang
Orphanet Journal of Rare Diseases.2024;[Epub] CrossRef
Genotype-phenotype correlation and founder effect analysis in southeast Chinese patients with sialidosis type I
Yi-Chu Du, Ling-Han Ma, Quan-Fu Li, Yin Ma, Yi Dong, Zhi-Ying Wu
Orphanet Journal of Rare Diseases.2024;[Epub] CrossRef
Progressive myoclonic ataxia as an initial symptom of typical type I sialidosis with NEU1 mutation
Jingjing Lin, Yun‐Lu Li, Bo‐Li Chen, Hui‐Zhen Su, Yi‐Heng Zeng, Rui‐Huang Zeng, Yu‐Duo Zhang, Ru‐Kai Chen, Nai‐Qing Cai, Yi‐Kun Chen, Ru‐Ying Yuan, Jun‐Yi Jiang, Xiang‐Ping Yao, Ning Wang, Wan‐Jin Chen, Kang Yang
Annals of Clinical and Translational Neurology.2024; 11(11): 2998. CrossRef
Two cases of type I sialidosis and a literature review
Yuan Ding, Ming Cheng, Chunxiu Gong
Orphanet Journal of Rare Diseases.2024;[Epub] CrossRef
Lysosomal storage diseases. Mucolipidosis
Viktoria N. Gorbunova, Natalia V. Buchinskaia, Anastasia O. Vechkasova
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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
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Brief communications

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

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Abstract PDF Supplementary 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.

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Knowledge and practice of deep brain stimulation among pediatric neurology residents in Saudi Arabia
Hanin Jaber Algethami, Munirah Hamdan Alkhrisi, Sara Ayed Alanazi, Ruba Abdelmoaty
Journal of Medicine and Life.2025; 18(2): 140. CrossRef
Exploring deep brain stimulation willingness in Black individuals with Parkinson’s disease
Chiamaka Onuigbo, Chantale Branson
Equity Neuroscience.2025; 1(2): 100012. CrossRef
Knowledge of Parkinson's Disease, Perceptions of Deep Brain Stimulation, and Attitudes Toward Its Use Among Patients in Morocco: A Cross-Sectional Study
Mohamed Daghi, Abdelhakim Lakhdar, Hicham El Otmani
Journal of Patient Experience.2025;[Epub] CrossRef
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
Public Perception and Value of Functional Neurosurgery in Saudi Arabia: A Cross-sectional Survey
Abdulsalam Mohammed Aleid, Aseel Abdullah Alahmari, Nouf Faris Alanazi, Montadhar M. Almohammedsaleh, Nawaf Y. Al Qasim, Awn A. Alessa, Abdulmonem A. Alhussain, Reem Sayeb AlAtrash, Abdulmajeed Abdulaziz Aljabr, Sami F. Almalki
Journal of Advanced Trends in Medical Research.2024; 1(2): 728. 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

Deep Brain Stimulation Battery Exhaustion during the COVID-19 Pandemic: Crisis within a Crisis: Vikram Venkappayya Holla, Koti Neeraja, Bharath Kumar Surisetti, Shweta Prasad, Nitish Kamble, Dwarakanath Srinivas, Ravi Yadav, Pramod Kumar Pal; J Mov Disord. 2020;13(3):218-222. Published online August 31, 2020; DOI: https://doi.org/10.14802/jmd.20073

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Abstract PDF

Objective
The novel coronavirus disease (COVID-19) pandemic and public health measures to control it have resulted in unique challenges in the management of patients with deep brain stimulation (DBS). We report our experience with the management of acute worsening of symptoms due to battery exhaustion in 3 patients with DBS.
Methods
Patients with DBS for movement disorders who visited the emergency room due to battery exhaustion during the nationwide lockdown from April to May 2020 were included.
Results
Two patients with subthalamic nucleus-DBS for Parkinson’s disease (PD) and one with globus pallidus interna-DBS for generalized dystonia presented with acute worsening of symptoms due to battery exhaustion. Urgent battery replacement was performed in both patients with PD. The patient with generalized dystonia was managed with medication adjustment as he chose to defer battery replacement.
Conclusion
DBS battery replacement can be an emergency. Decisions regarding DBS battery replacement should be individualized during this COVID-19 pandemic.

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Deep brain stimulation within a multi-center US-based healthcare system – A descriptive epidemiologic review from 2010 through 2021
Mark F. Sedrak, Richard N. Chang, Patrick Pezeshkian, Chelsea E. Reyes, Heather A. Prentice, Elizabeth W. Paxton, Monica A. Skordilis, Patrick T. Hickey, Siddharth Srivastava, Ross Anderson
Journal of Clinical Neuroscience.2025; 139: 111428. CrossRef
Parkinsonism‐Hyperpyrexia Syndrome Following Deep Brain Stimulation Battery Depletion during the COVID‐19 Pandemic: A Case Series and Review of the Literature
Seyed Amir Hassan Habibi, Negin Eissazade, Tayebe Lotfi, Mansour Parvaresh‐Rizi, Gholamali Shahidi, Mohammad Rohani
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Vittorio Rispoli, Matías Eduardo Díaz Crescitelli, Francesco Cavallieri, Francesca Antonelli, Stefano Meletti, Luca Ghirotto, Franco Valzania
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Ishita Desai, Niraj Kumar
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Spectrum of Movement Disorder Emergencies in a Tertiary Care Center in India
Abhishek P. Bhoyar, Rohan Mahale, Nitish Kamble, Vikram Holla, Pramod Kumar Pal, Ravi Yadav
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Onanong Phokaewvarangkul, Sasivimol Virameteekul, Roongroj Bhidayasiri
Parkinsonism & Related Disorders.2021; 87: 39. CrossRef
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Niraj Kumar, Ravi Gupta
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Original Article

The Non-Motor Symptom Profile of Progressive Supranuclear Palsy: Sudhakar Pushpa Chaithra, Shweta Prasad, Vikram Venkappayya Holla, Albert Stezin, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal; J Mov Disord. 2020;13(2):118-126. Published online April 6, 2020; DOI: https://doi.org/10.14802/jmd.19066

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Abstract PDF

Objective
Non-motor symptoms (NMSs) significantly contribute to increased morbidity and poor quality of life in patients with parkinsonian disorders. This study aims to explore the profile of NMSs in patients with progressive supranuclear palsy (PSP) using the validated Non-Motor Symptom Scale (NMSS).
Methods
Seventy-six patients with PSP were evaluated in this study. Motor symptoms and NMSs were evaluated using the PSP Rating Scale (PSPRS), Unified Parkinson’s Disease Rating Scale-III, Montreal Cognitive Assessment, Hamilton Depression (HAMD) and Anxiety Rating Scales, Parkinson’s Disease Sleep Scale (PDSS) and NMSS. NMS severity and prevalence were also compared between patients with PSP-Richardson syndrome (PSP-RS) and those with PSP-parkinsonism.
Results
All subjects in this cohort reported at least 2 NMSs. The most prevalent NMSs in patients with PSP were in the domains of sleep/fatigue, mood/cognition, and sexual function. The least prevalent NMSs were in the domains of cardiovascular including falls, and perceptual problems/hallucinations. Significant correlations were observed between the NMSS scores and HAM-D, PDSS, PSPRS scores and PSPRS sub-scores. The severity of NMSs was unrelated to the duration of illness. Patients with PSP-RS reported a higher severity of drooling, altered smell/taste, depression and altered interest in sex and a higher prevalence of sexual dysfunction.
Conclusion
NMSs are commonly observed in patients with PSP, and the domains of sleep, mood and sexual function are most commonly affected. These symptoms contribute significantly to disease morbidity, and clinicians should pay adequate attention to identifying and addressing these symptoms.

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