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.

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.

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.

Letter to the editor

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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PDF Supplementary Material

Citations

Citations to this article as recorded by

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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5 Web of Science
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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.

Citations

Citations to this article as recorded by

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

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