KMDS
E-submission
Search
- Page Path
- HOME > Search
Letters to the editor
- 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
- J Mov Disord. 2026;19(1):94-97. Published online September 11, 2025
- DOI: https://doi.org/10.14802/jmd.25095
- 1,963 View
- 71 Download
- 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
- 4,104 View
- 56 Download
- 1 Web of Science
- 1 Crossref
-
PDF
Supplementary Material -
Citations
Citations to this article as recorded by
- Association between the triglyceride-glucose index and disease severity in non-diabetic Parkinson’s disease patients
Deyan Zeng, Min Luo, Baojun Zhang, Yan Zhang, Ailan Pang, Xinglong Yang
Frontiers in Aging Neuroscience.2026;[Epub] CrossRef
- Association between the triglyceride-glucose index and disease severity in non-diabetic Parkinson’s disease patients
- 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
- 3,955 View
- 114 Download
- 2 Web of Science
- 2 Crossref
-
PDFSupplementary Material
-
Citations
Citations to this article as recorded by- A Rare Case of Abdominal Myorhythmia in Anti‐IgLON 5 Disease
Asish Vijayaraghavan, Divya Kalikavil Puthenveedu, Soumya Sundaram, Deepti Narasimhaiah, Syam Krishnan, Sajith Sukumaran
Movement Disorders Clinical Practice.2026; 13(9): 2259. CrossRef - Clinical features, outcome and HLA subtypes in Eastern patients with anti-IgLON5 disease: a multicenter study
Yining Gao, Xiaobo Sun, Yifan Zhou, Huoqing Luo, Lu He, You Ni, Huanyu Meng, Ying Zhang, Yaying Song, Ying Wang, Fan Song, Meiyuan Chen, Yajun Lian, Yuan Chen, Xing Zhao, Xiang Zhang, Xiangjun Chen, Guomin Xie, Cui Zhao, Xiaoming Zhou, Xiao Hu, Youming Lo
Orphanet Journal of Rare Diseases.2026;[Epub] CrossRef
- A Rare Case of Abdominal Myorhythmia in Anti‐IgLON 5 Disease
- 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
- J Mov Disord. 2026;19(1):86-89. Published online August 9, 2025
- DOI: https://doi.org/10.14802/jmd.25114
- 2,004 View
- 110 Download
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
- 11,581 View
- 247 Download
- 5 Web of Science
- 5 Crossref
-
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.
-
Citations
Citations to this article as recorded by- Deep cerebellar stimulation restores chronic motor deficits and loss of GABAergic neurons following sensorimotor cortex surgical brain injury in female rats
Minkyung Kim, Hugh H. Chan, Brittany Fisher, Nandini Bangalore, Molly Shamah, Sophie Shimeall, Nymisha Mandava, Olivia Hogue, André G. Machado, Kenneth B. Baker
Experimental Neurology.2026; 402: 115779. CrossRef - Delayed Holm’s tremor complicated by contralateral midbrain metastasis: A nigrostriatal subtype
Sang-Won Yoo, Hyochun Lee, Joong-Seok Kim
Neurological Sciences.2025; 46(5): 2329. CrossRef - 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
Olga V. Guseva, Natalia G. Zhukova
Bulletin of Rehabilitation Medicine.2023; 22(6): 21. CrossRef
- Deep cerebellar stimulation restores chronic motor deficits and loss of GABAergic neurons following sensorimotor cortex surgical brain injury in female rats
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
- 6,939 View
- 183 Download
- 7 Web of Science
- 6 Crossref
-
Abstract
PDFSupplementary Material
- Objective
With the use of next-generation sequencing in clinical practice, several genetic etiologies of dystonia have been identified. This study aimed to ascertain the utility of clinical exome sequencing (CES) in dystonia and factors suggestive of a genetic etiology.
Methods
This study was a retrospective chart review of patients with dystonia who had undergone CES for the evaluation of dystonia.
Results
Forty-eight patients (35 males, 46 families) with dystonia were studied, with a mean age at onset of 16.0 ± 14.1 (1–58) years. A pathogenic/likely pathogenic variant was found in 20 patients (41.7%) among which 14 patients (29.2%) carried a novel variant. CES was more likely to detect a genetic diagnosis in patients with an early age at onset, i.e., ≤ 20 years.
Conclusion
CES is a useful tool in the diagnostic evaluation of dystonia, with a yield of close to 40%. Patients with an earlier age at onset have a higher likelihood of having dystonia due to a genetic cause than those with a later age at onset. -
Citations
Citations to this article as recorded by- DYT-AOPEP: A case series from India expanding the clinical and genetic spectrum
Debayan Dutta, Jacky Ganguly, Vikram Venkappayya Holla, Ravi Yadav, Nitish Kamble, Rohit Keshav, Nishanth Gowda, Pramod Kumar Pal, Hrishikesh Kumar
Parkinsonism & Related Disorders.2026; 145: 108227. 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 - 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
- DYT-AOPEP: A case series from India expanding the clinical and genetic spectrum
- 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
- 10,968 View
- 184 Download
- 12 Web of Science
- 11 Crossref
-
Abstract
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- Unilateral Oculomotor Apraxia and Pseudodystonia in Joubert Syndrome Associated With Novel CPLANE1 Variant
Joo Sung Park, Joo‐Yeon Lee, Young Bae Sohn, In Ja Shin, Jung Han Yoon, Don Gueu Park
Movement Disorders Clinical Practice.2026;[Epub] CrossRef - 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
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 - 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
Molecular Syndromology.2024; 16(5): 411. 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
- Unilateral Oculomotor Apraxia and Pseudodystonia in Joubert Syndrome Associated With Novel CPLANE1 Variant
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
- 9,670 View
- 165 Download
- 10 Web of Science
- 12 Crossref
-
Abstract
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
Citations to this article as recorded by- A young woman with ataxia, seizures and myoclonus
Jayaram Saibaba, Saranya B Gomathy, Ramkumar Sugumaran, Sunil K Narayan
Practical Neurology.2026; 26(5): 510. CrossRef - Sialidosis type I: How to alleviate disabling myoclonic seizures?—A multicenter analysis of eight cases and review of the literature
Janina Gburek‐Augustat, I‐Chun Lee, Marica Rubino, Vehap Topçu, Melissa Chavez‐Castillo, Shao Ching Tu, Marwan Shinawi, Isabel Alfradique‐Dunham, Manouela Valtcheva, Astrid Adarmes‐Gómez, Daniel Macias‐Garcia, Laura Laura Muñoz‐Delgado, Silvia Jesús, Pabl
Epilepsia Open.2026; 11(2): 577. CrossRef - Next-Generation Sequencing and Variant Cataloguing for Screening and Diagnosis of Mucolipidoses and Other Lysosome-Related Organelle Disorders, Including Lysosomal Membrane or Transport Disorders
Irina Vlasova-St. Louis, Svetlana Khaiboullina
Genes.2026; 17(6): 643. CrossRef - Sialidosis Type II in Siblings with a Novel NEU1 Variant: Clinical and Molecular Genetic Analysis
Oksana Ch Mazur, Sergey V. Baiko, Alena Mikhalenka, Marina I. Kolybenko, Asya A. Gusina, Alexander V. Kilchevsky
SN Comprehensive Clinical Medicine.2026;[Epub] CrossRef - 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 - 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
Pediatrician (St. Petersburg).2024; 15(5): 81. CrossRef - 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
- A young woman with ataxia, seizures and myoclonus
Letter to the editor
- Speech-Induced Task-Specific Cranio-Cervical Tardive Dystonia: An Unusual Phenomenology
- Vikram Venkappayya Holla
- J Mov Disord. 2021;14(1):84-85. Published online September 21, 2020
- DOI: https://doi.org/10.14802/jmd.20067
- 9,399 View
- 86 Download
- 4 Web of Science
- 2 Crossref
-
PDFSupplementary Material
-
Citations
Citations to this article as recorded by
Brief communication
- 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
- 16,014 View
- 125 Download
- 20 Web of Science
- 13 Crossref
-
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. -
Citations
Citations to this article as recorded by- 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
Movement Disorders Clinical Practice.2026; 13(1): 248. CrossRef - 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 - 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
IEEE Transactions on Medical Robotics and Bionics.2021; 3(3): 671. CrossRef - 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
- Parkinsonism‐Hyperpyrexia Syndrome Following Deep Brain Stimulation Battery Depletion during the COVID‐19 Pandemic: A Case Series and Review of the Literature
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
- 14,465 View
- 298 Download
- 33 Web of Science
- 31 Crossref
-
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. -
Citations
Citations to this article as recorded by- Circadian Rhythms of Sleep–Wake, Thermoregulatory and Cardiovascular Function in Progressive Supranuclear Palsy
Francesca Baschieri, Luisa Sambati, Pietro Antenucci, Annagrazia Cecere, Pietro Guaraldi, Pietro Cortelli, Federica Provini, Giovanna Calandra‐Buonaura
Movement Disorders Clinical Practice.2026; 13(2): 410. CrossRef - A comparison of nonmotor symptom profiles in Progressive supranuclear palsy and Parkinson’s disease
S P. Chaithra, Vikram V. Holla, Shweta Prasad, Nitish L. Kamble, Ravi Yadav, Pramod K. Pal
Annals of Movement Disorders.2026; 9(1): 58. CrossRef - Progressive Supranuclear Palsy in India: Insights from a Large Multicenter Clinical Cohort (Project PAIR‐PSP)
Prashanth Lingappa Kukkle, Divyani Garg, Jacky Ganguly, Soaham Desai, Rukmini Mridula Kandadai, Sahil Mehta, Pettarusp Murzban Wadia, Deepika Joshi, Lulup Sahoo, Vijayashankar Paramanandam, Taallapalli Ashok Vardhan Reddy, Adreesh Mukherjee, Syam Krishnan
Movement Disorders Clinical Practice.2026;[Epub] CrossRef - Clinically Probable REM Sleep Behavior Disorder and Other Non‐Motor Symptoms in Progressive Supranuclear Palsy: Prevalence and Associated Clinical Features
Neeraj Balaini, Paras Borse, Manu Santhappan Girija, Reji Paul, Aimy Hynse, Asha Kishore
Movement Disorders Clinical Practice.2026;[Epub] CrossRef - 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 - Cognitive impairment in Parkinson’s disease and other parkinsonian syndromes
Alexandros Giannakis, Chrissa Sioka, Eugenia Kloufetou, Spiridon Konitsiotis
Journal of Neural Transmission.2025; 132(3): 341. CrossRef - Progressive Supranuclear Palsy in India: Past, Present, and Future
Srinivas Raju, Kuldeep Shetty, Lulup Sahoo, Vijayashankar Paramanandam, Jay M Iyer, Suvorit Bowmick, Soaham Desai, Deepika Joshi, Niraj Kumar, Sahil Mehta, Rukmini Mridula Kandadai, Pettarusp Wadia, Atanu Biswas, Divyani Garg, Pankaj Agarwal, Syam Krishna
Annals of Indian Academy of Neurology.2025; 28(1): 17. CrossRef - Taste impairment in patients with Parkinsonism
Qingyong Zhu, Han Liu, Jiuqi Wang, Renyi Feng, Mingming Ma, Xuejing Wang, Xuebing Ding
Journal of Neurology.2025;[Epub] CrossRef - Comparative study of nonmotor symptoms in progressive supranuclear palsy and Parkinson’s disease
Ying Chen, Yiming Li, Jieming Huang, Yajing Cai, Xiaochun Chen, Qinyong Ye
BMC Neurology.2025;[Epub] CrossRef - Olfactory dysfunction in Parkinson-plus syndromes: A comparison among themselves and controls
Zubair Sarkar, Ruchika Tandon
Journal of Neurosciences in Rural Practice.2025; 16: 217. CrossRef - A Pragmatic Approach to Sexual Health in Movement Disorders
Justus Chun‐Yu Chen, Renato P. Munhoz, Anthony E. Lang, Peer Briken, Christos Ganos
Movement Disorders Clinical Practice.2025; 12(12): 2058. CrossRef - Cross-sectional and longitudinal validation of short and long versions of the progressive supranuclear palsy quality of life scale
Qi Shen, Yi-Xin Zhao, Gan Tang, Qin Zhang, KunWang Chan, Lu Feng, Xiao-Niu Liang, Jian-Jun Wu, Jian Wang, Xin-Yi Li, Feng-Tao Liu
Journal of Neural Transmission.2025;[Epub] CrossRef - Progressive supranuclear palsy and corticobasal syndrome: cross-sectional study of palliative care needs
Noreen Margaret O’Shea, Shane McCarthy Lyons, Emmet Kelly, Stephen Higgins, Sean O’Dowd
BMJ Supportive & Palliative Care.2025; : spcare-2025-005836. 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
Journal of Movement Disorders.2024; 17(2): 158. CrossRef - Quality of life in patients with progressive supranuclear palsy: a review of literature and implications for practice
Michał Markiewicz, Natalia Madetko-Alster, Piotr Alster
Frontiers in Neurology.2024;[Epub] CrossRef - Spatial discrimination in patients with MSA, PSP, DIP, and VP with pain
Min Seung Kim, Jaeho Kim, Suk Yun Kang
Scientific Reports.2024;[Epub] CrossRef - Olfactory dysfunction as a diagnostic and prognostic marker for movement disorders
Aliasghar Peyvandi, Shahrokh Khoshsirat, Narges Bazgir, Amirreza Zaker, Azin Tahvildari, Somayeh Niknazar, Sara Mohammadi, Mehri Salari
Annals of Movement Disorders.2024; 7(3): 171. CrossRef - Autonomic dysfunction in progressive supranuclear palsy
Francesca Baschieri, Maria Vitiello, Pietro Cortelli, Giovanna Calandra-Buonaura, Francesca Morgante
Journal of Neurology.2023; 270(1): 109. CrossRef - Non-motor symptoms in multiple system atrophy: A comparative study with Parkinson's disease and progressive supranuclear palsy
Wen-Zheng Hu, Ling-Xiao Cao, Jin-Hui Yin, Xue-Song Zhao, Ying-Shan Piao, Wei-Hong Gu, Jing-Hong Ma, Zhi-Rong Wan, Yue Huang
Frontiers in Neurology.2023;[Epub] CrossRef - Neurological update: the palliative care landscape for atypical parkinsonian syndromes
Noreen O’Shea, Shane Lyons, Stephen Higgins, Sean O’Dowd
Journal of Neurology.2023; 270(4): 2333. CrossRef - Structural correlates of survival in progressive supranuclear palsy
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
Parkinsonism & Related Disorders.2023; 116: 105866. CrossRef - Migraine and Tension-type Headache in Parkinson’s Disease and Progressive Supranuclear Palsy/Corticobasal Syndrome
Vinayak Jatale, Ashutosh Tiwari, Mritunjai Kumar, Ravi Gupta, Niraj Kumar
Annals of Indian Academy of Neurology.2023; 26(5): 708. CrossRef - A Systematic Review of Apathy and Depression in Progressive Supranuclear Palsy
Joshua Flavell, Peter J. Nestor
Journal of Geriatric Psychiatry and Neurology.2022; 35(3): 280. CrossRef - The Burden of Progressive Supranuclear Palsy on Patients, Caregivers, and Healthcare Systems by PSP Phenotype: A Cross-Sectional Study
Demetris Pillas, Alexander Klein, Teresa Gasalla, Andreja Avbersek, Alexander Thompson, Jack Wright, Jennifer Mellor, Anna Scowcroft
Frontiers in Neurology.2022;[Epub] CrossRef - PDQ-8: A Simplified and Effective Tool Measuring Life Quality in Progressive Supranuclear Palsy
Xin-Yi Li, Ming-Jia Chen, Xiao-Niu Liang, Rui-Xin Yao, Bo Shen, Bin Wu, Gen Li, Yi-Min Sun, Jian-Jun Wu, Feng-Tao Liu, Yu-Jie Yang, Jian Wang
Journal of Parkinson’s Disease.2022; 13(1): 83. CrossRef - Fatigue in hypokinetic, hyperkinetic, and functional movement disorders
Ilaria Antonella Di Vico, Giovanni Cirillo, Alessandro Tessitore, Mattia Siciliano, Massimo Venturelli, Cristian Falup-Pecurariu, Gioacchino Tedeschi, Francesca Morgante, Michele Tinazzi
Parkinsonism & Related Disorders.2021; 86: 114. CrossRef - Prevalence and Characteristics of Polyneuropathy in Atypical Parkinsonian Syndromes: An Explorative Study
Rachel Rohmann, Eva Kühn, Raphael Scherbaum, Lovis Hilker, Saskia Kools, Leonard Scholz, Katharina Müller, Sophie Huckemann, Christiane Schneider-Gold, Ralf Gold, Kalliopi Pitarokoili, Lars Tönges, Eun Hae Kwon
Brain Sciences.2021; 11(7): 879. CrossRef - Understanding fatigue in progressive supranuclear palsy
Jong Hyeon Ahn, Joomee Song, Dong Yeong Lee, Jinyoung Youn, Jin Whan Cho
Scientific Reports.2021;[Epub] CrossRef - “Parkinson’s disease” on the way to progressive supranuclear palsy: a review on PSP-parkinsonism
Ján Necpál, Miroslav Borsek, Bibiána Jeleňová
Neurological Sciences.2021; 42(12): 4927. CrossRef - Clinical progression of progressive supranuclear palsy: impact of trials bias and phenotype variants
Duncan Street, Maura Malpetti, Timothy Rittman, Boyd C P Ghosh, Alexander G Murley, Ian Coyle-Gilchrist, Luca Passamonti, James B Rowe
Brain Communications.2021;[Epub] CrossRef - Pain in neurodegenerative diseases with atypical parkinsonism: a systematic review on prevalence, clinical presentation, and findings from experimental studies
Jerry Yi Chang, Katarina Rukavina, Timothy Lawn, K Ray Chaudhuri
Journal of Integrative Neuroscience.2021;[Epub] CrossRef
- Circadian Rhythms of Sleep–Wake, Thermoregulatory and Cardiovascular Function in Progressive Supranuclear Palsy
First
Prev
