Journal of Movement Disorders

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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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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Myoclonus: an update
Betsy Thomas, Steven J. Frucht
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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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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.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

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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

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.

Citations

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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
Journal of Movement Disorders.2024; 17(3): 339. CrossRef
Progressive Dysphagia in Joubert Syndrome: A Report of a Rare Case
Courteney Castellano, Jomaries O Gomez Rosado, Alexandra Witt, Rebecca Simon, Dyadin Esharif
Cureus.2024;[Epub] CrossRef
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
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

Letter to the editor

Levodopa-Associated Barking Vocalizations: Shweta Prasad, Pramod Kumar Pal; J Mov Disord. 2021;14(2):164-165. Published online October 31, 2020; DOI: https://doi.org/10.14802/jmd.20086

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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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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
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Two cases of type I sialidosis and a literature review
Yuan Ding, Ming Cheng, Chunxiu Gong
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A fuzzy rule based machine intelligence model for cherry red spot disease detection of human eyes in IoMT
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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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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

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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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Lessons learned during COVID-19 pandemic, a worldwide survey: evolution of global neurosurgical practice
Harsh DEORA, Amol RAHEJA, Shashwat MISHRA, Vivek TANDON, Edoardo AGOSTI, Pierlorenzo VEICESCHI, Kanwaljeet GARG, Vikas NAIK, Shweta KEDIA, Rajesh MEENA, Satya S. MUNJAL, Bipin CHAURASIA, Jack WELLINGTON, Davide LOCATELLI, Marco M. FONTANELLA, Manmohan SIN
Journal of Neurosurgical Sciences.2024;[Epub] CrossRef
Akinetic crisis and withdrawal syndromes: guideline “Parkinson’s disease” of the German Society of Neurology
Monika Pötter-Nerger, Matthias Löhle, Günter Höglinger
Journal of Neurology.2024; 271(10): 6485. CrossRef
Deep Brain Stimulation Withdrawal Syndrome, a Rare Life-Threatening Condition in Neurology and Neurosurgery
Ekaterina V. Bril, Alexey A. Tomskiy, Anna A. Gamaleya, Anna A. Poddubskaya, Dmytriy G. Kesarev, Natalia V. Fedorova
Annals of Clinical and Experimental Neurology.2024; 18(3): 91. CrossRef
Effects of COVID-19 on Synaptic and Neuronal Degeneration
Mohammed S. Alqahtani, Mohamed Abbas, Mohammad Y. Alshahrani, Khulud Alabdullh, Amjad Alqarni, Fawaz F. Alqahtani, Layal K. Jambi, Adnan Alkhayat
Brain Sciences.2023; 13(1): 131. CrossRef
Needs and Perceptions of Patients With Dystonia During the COVID-19 Pandemic: A Qualitative Framework Analysis of Survey Responses From Italy
Vittorio Rispoli, Matías Eduardo Díaz Crescitelli, Francesco Cavallieri, Francesca Antonelli, Stefano Meletti, Luca Ghirotto, Franco Valzania
Frontiers in Neurology.2022;[Epub] CrossRef
Movement Disorder Emergencies
Ishita Desai, Niraj Kumar
Annals of Indian Academy of Neurology.2022; 25(5): 801. CrossRef
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
Annals of Indian Academy of Neurology.2022; 25(5): 890. CrossRef
Parkinsonism hyperpyraexia syndrome in Parkinson's disease patients undergoing deep brain stimulation: An indirect consequence of COVID-19 lockdowns
Onanong Phokaewvarangkul, Sasivimol Virameteekul, Roongroj Bhidayasiri
Parkinsonism & Related Disorders.2021; 87: 39. CrossRef
An Investigation Into Miniaturised Closed-Loop DBS Devices
Dean M. Corva, Scott D. Adams, Kevin E. Bennet, Parastoo Hashemi, Michael Berk, Abbas Z. Kouzani
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Impact of COVID-19 Pandemic on Parkinson's Disease
Niraj Kumar, Ravi Gupta
Annals of Indian Academy of Neurology.2021; 24(2): 121. CrossRef
Effects of COVID-19 Lockdown on Movement Disorders Patients With Deep Brain Stimulation: A Multicenter Survey
Carla Piano, Francesco Bove, Tommaso Tufo, Isabella Imbimbo, Danilo Genovese, Alessandro Stefani, Massimo Marano, Antonella Peppe, Livia Brusa, Rocco Cerroni, Francesco Motolese, Enrico Di Stasio, Marianna Mazza, Antonio Daniele, Alessandro Olivi, Paolo C
Frontiers in Neurology.2020;[Epub] CrossRef

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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Response to the letter regarding “Differences in progressive supranuclear palsy in patients of Asian ancestry?”
Shen-Yang Lim, Azalea T. Pajo, Alfand Marl F. Dy Closas, Jia Wei Hor, Tzi Shin Toh, Su Juen Ngim, Yi Zhe Lim, Ai Huey Tan
Parkinsonism & Related Disorders.2025; 130: 107162. CrossRef
Phenotypic Spectrum of Progressive Supranuclear Palsy: Clinical Study and Apolipoprotein E Effect
Amina Nasri, Ikram Sghaier, Anis Neji, Alya Gharbi, Youssef Abida, Saloua Mrabet, Amina Gargouri, Mouna Ben Djebara, Imen Kacem, Riadh Gouider
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Michał Markiewicz, Natalia Madetko-Alster, Piotr Alster
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Alexandros Giannakis, Chrissa Sioka, Eugenia Kloufetou, Spiridon Konitsiotis
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Aliasghar Peyvandi, Shahrokh Khoshsirat, Narges Bazgir, Amirreza Zaker, Azin Tahvildari, Somayeh Niknazar, Sara Mohammadi, Mehri Salari
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Francesca Baschieri, Maria Vitiello, Pietro Cortelli, Giovanna Calandra-Buonaura, Francesca Morgante
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Duncan Street, W Richard Bevan-Jones, Maura Malpetti, P Simon Jones, Luca Passamonti, Boyd CP. Ghosh, Timothy Rittman, Ian TS. Coyle-Gilchrist, Kieren Allinson, Catherine E. Dawson, James B. Rowe
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Joshua Flavell, Peter J. Nestor
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Letter to the editor

Manganism without Parkinsonism: Isolated Unilateral Upper Limb Tremor in a Welder: Shweta Prasad, Uzma Shamim, Akanksha Minj, Mohammed Faruq, Pramod Kumar Pal; J Mov Disord. 2019;12(2):135-137. Published online April 5, 2019; DOI: https://doi.org/10.14802/jmd.18068

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