Journal of Movement Disorders

Clinico-genetic profile of seven patients with PARK-PINK1: A case series from a tertiary care centre from India and review of literature: Aravind Gunasekaran, Vikram V Holla, Prashant Phulpagar, Sneha D Kamath, Nitish Kamble, Ravi Yadav, Babylakshmi Muthusamy, Pramod K Pal; Received July 8, 2024 Accepted September 17, 2024 Published online September 19, 2024; DOI: https://doi.org/10.14802/jmd.24157 [Accepted]

198 View
15 Download

Abstract PDF: Background
Recessive variants in the PINK1 gene is a known cause of early-onset Parkinson’s disease (EOPD).
Objective
To describe the clinical features and genetic profile of patients of PARK-PINK1.
Methods
Retrospective chart review of demographic, clinical and genetic details of patients carrying biallelic PINK1 variants from our database.
Result
Seven cases were recruited with median age at onset 33 years (Range: 20-49). All had asymmetrical onset, tremor in four, abnormal posturing in two and slowness in one patient. Parkinsonism phenotype was noted in six patients (with dystonia in four) and isolated dystonia in one. Among 6 patients with parkinsonism, five had rest tremor, all had good levodopa-response, and four had motor-fluctuation with choreiform-dyskinesia. Exome-sequencing revealed bi-allelic pathogenic/likely pathogenic variants in all of which five 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.

Journey through ARSACS: Insights from a case series of seven patients - A single centre study and review of Indian cohort: Mit Ankur Raval, Vikram V Holla, Nitish Kamble, Gautham Arunachal, Babylakshmi Muthusamy, Jitender Saini, Ravi Yadav, Pramod Kumar Pal; Received July 3, 2024 Accepted August 29, 2024 Published online August 29, 2024; DOI: https://doi.org/10.14802/jmd.24154 [Accepted]

510 View
190 Download
1 Comments

Abstract PDF: Background
In this study we describe the clinical, and investigations profile of 7 cases of autosomal-recessive spastic-ataxia of Charlevoix-Saguenay (ARSACS).
Methods
We performed retrospective chart review of genetically proven cases of ARSACS from our database. Additionally, we reviewed literature for reported cases of ARSACS from India.
Result
All seven patients had onset within the first-decade. As per the available data, all 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 thickened retinal nerve fiber layer (3/3). Exome sequencing revealed 8 pathogenic/likely-pathogenic unique variants (6 novel) in SACS gene. 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.

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

1,045 View
54 Download

PDF Supplementary Material

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

761 View
38 Download

PDF Supplementary Material

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

1,019 View
53 Download

PDF Supplementary Material

Genetically Proven Ataxia With Vitamin E Deficiency With Predominant Cervicobrachial Dystonic Presentation: A Case Report From India: Vikram V. Holla, Sandeep Gurram, Sneha D. Kamath, Gautham Arunachal, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal; J Mov Disord. 2024;17(2):220-222. Published online December 18, 2023; DOI: https://doi.org/10.14802/jmd.23227

1,475 View
59 Download

PDF Supplementary Material

“Face of the Giant Panda” Sign and Bilateral Thalamic Hyperintensity in Isoniazid-Induced Ataxia: Vikram V. Holla, Manjunath Netravathi, Nitish Kamble, Jitender Saini, Pramod Kumar Pal; J Mov Disord. 2024;17(1):99-101. Published online August 2, 2023; DOI: https://doi.org/10.14802/jmd.23112

1,623 View
129 Download
1 Crossref

PDF Supplementary Material

Citations

Citations to this article as recorded by

Clinical and neuroimaging features in neurological Wilson’s disease with claustrum lesions
Xin-feng Ma, Ling-yun Fan, Ping Jin, Kang Lin, Guang-an Tong, Gong-qiang Wang
Scientific Reports.2024;[Epub] CrossRef

Dystonic Opisthotonus in Kufor-Rakeb Syndrome: Expanding the Phenotypic and Genotypic Spectrum: Sandeep Gurram, Vikram V Holla, Riyanka Kumari, Debjyoti Dhar, Nitish Kamble, Ravi Yadav, Babylakshmi Muthusamy, Pramod Kumar Pal; J Mov Disord. 2023;16(3):343-346. Published online July 25, 2023; DOI: https://doi.org/10.14802/jmd.23098

1,709 View
94 Download
1 Web of Science
1 Crossref

PDF Supplementary Material

Citations

Citations to this article as recorded by

Estimation of Ambulation and Survival in Neurodegeneration with Brain Iron Accumulation Disorders
Elahe Amini, Mohammad Rohani, Anthony E. Lang, Zahra Azad, Seyed Amir Hassan Habibi, Afagh Alavi, Gholamali Shahidi, Maziar Emamikhah, Ahmad Chitsaz
Movement Disorders Clinical Practice.2023;[Epub] CrossRef

KMT2B-Related Dystonia in Indian Patients With Literature Review and Emphasis on Asian Cohort: Debjyoti Dhar, Vikram V Holla, Riyanka Kumari, Neeharika Sriram, Jitender Saini, Ravi Yadav, Akhilesh Pandey, Nitish Kamble, Babylakshmi Muthusamy, Pramod Kumar Pal; J Mov Disord. 2023;16(3):285-294. Published online June 13, 2023; DOI: https://doi.org/10.14802/jmd.23035

3,627 View
197 Download
1 Web of Science
1 Crossref

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.

Citations

Citations to this article as recorded by

Clinical and genetic profile of patients with dystonia: An experience from a tertiary neurology center from India
Debjyoti Dhar, Vikram V. Holla, Riyanka Kumari, Ravi Yadav, Nitish Kamble, Babylakshmi Muthusamy, Pramod Kumar Pal
Parkinsonism & Related Disorders.2024; 120: 105986. CrossRef

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

2,042 View
65 Download
2 Web of Science
2 Crossref

PDF Supplementary Material

Citations

Citations to this article as recorded by

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

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

3,235 View
160 Download
2 Web of Science
2 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

Biofeedback Endurance Training for Gait Rehabilitation in Parkinson’s Disease: a Non-Randomized Controlled Study
Olga V. Guseva, Natalia G. Zhukova
Bulletin of Rehabilitation Medicine.2024; 22(6): 21. CrossRef
Myoclonus: an update
Betsy Thomas, Steven J. Frucht
Current Opinion in Neurology.2024; 37(4): 421. CrossRef

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

3,134 View
165 Download
2 Web of Science
2 Crossref

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

Dissecting genetic architecture of rare dystonia: genetic, molecular and clinical insights
Burcu Atasu, Javier Simón-Sánchez, Hasmet Hanagasi, Basar Bilgic, Ann-Kathrin Hauser, Gamze Guven, Peter Heutink, Thomas Gasser, Ebba Lohmann
Journal of Medical Genetics.2024; : jmg-2022-109099. CrossRef
Whole exome sequencing and clinical investigation of young onset dystonia: What can we learn?
Jong Hyeon Ahn, Ah Reum Kim, Woong-Yang Park, Jin Whan Cho, Jongkyu Park, Jinyoung Youn
Parkinsonism & Related Disorders.2023; 115: 105814. CrossRef

Long-Term Outcome of Hemimasticatory Spasm: Somdattaa Ray, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal; J Mov Disord. 2022;15(2):146-150. Published online March 16, 2022; DOI: https://doi.org/10.14802/jmd.21067

3,257 View
171 Download
4 Web of Science
4 Crossref

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.

Citations

Citations to this article as recorded by

Hemimasticatory spasm: a series of 17 cases and a comprehensive review of the literature
Kazuya Yoshida
Frontiers in Neurology.2024;[Epub] CrossRef
Hemimasticatory Spasm Treated With Muscle Afferent Block Therapy and Occlusal Splint
Kazuya Yoshida
Journal of Movement Disorders.2024; 17(2): 230. CrossRef
Peripherally induced movement disorders in the stomatognathic system after oral surgical or dental procedures
Kazuya Yoshida
Oral and Maxillofacial Surgery.2024;[Epub] CrossRef
Peripherally-induced Movement Disorders: An Update
Abhishek Lenka, Joseph Jankovic
Tremor and Other Hyperkinetic Movements.2023;[Epub] CrossRef

Clinical and Imaging Profile of Patients with Joubert Syndrome: Bharath Kumar Surisetti, Vikram Venkappayya Holla, Shweta Prasad, Koti Neeraja, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal; J Mov Disord. 2021;14(3):231-235. Published online September 16, 2021; DOI: https://doi.org/10.14802/jmd.21066

4,789 View
127 Download
7 Web of Science
6 Crossref

Abstract PDF Supplementary 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

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
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

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

5,095 View
106 Download

Abstract PDF Supplementary Material: Objective
There is limited literature on the knowledge, attitude, and perceptions (KAP) of botulinum toxin (BoNT) treatment among patients and caregivers. The objective of this study was to assess the KAP in patients undergoing BoNT treatment for movement disorders.
Methods
One hundred patients with movement disorders from National Institute of Mental Health and Neurosciences Hospital in Bengaluru, South India, were recruited. The patients underwent demographic, clinical, and Patient Knowledge Questionnaire on Botulinum Toxin Use in Movement Disorders (PKQ-BMD)-based evaluations.
Results
The mean age of patients at the time of presentation was 47.97 ± 14.19 years (range, 12–79). Of all the patients, 26 (28%) patients were anxious, and 86% of these patients were reassured after appropriate counseling. There were 83 (89%) patients who found BoNT to be a costlier option. Education and previous Internet searches influenced positive performance in the “knowledge” domain and overall PKQ-BMD scores. The “number of injections” was also positively correlated with KAP performance.
Conclusion
This study showed that knowledge and perceptions about BoNT treatment need to be further improved. Wider availability of the Internet has provided a positive impact on patients’ and carers’ KAP. Internet-based information, higher educational qualifications of the patients, and a higher number of BoNT injection sessions are the most important predictors of satisfactory KAP related to BoNT injection treatment in patients with movement disorders.

Search