Journal of Movement Disorders

Downbeat Nystagmus and Slow Orthostatic Tremor: Expanding the Clinical Spectrum of PNPLA6-Related Disorders: Madathum Kuzhiyil Farsana, Vikram V. Holla, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal; J Mov Disord. 2026;19(3):327-329. Published online February 23, 2026; DOI: https://doi.org/10.14802/jmd.26013

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Mixed Movement Disorder in a Patient With a Novel Biallelic KCNMA1 Splice-Site Variant: Expanding the Genotype–Phenotype Correlation: Madathum Kuzhiyil Farsana, Vikram V. Holla, Mit Ankur Raval, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal; J Mov Disord. 2026;19(3):330-333. Published online February 23, 2026; DOI: https://doi.org/10.14802/jmd.25336

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Clinical, Radiological, and Therapeutic Profiles of Patients With DYT-TOR1A: A Single-Center Study in India and Literature Review of the Asian MDSGene Cohort: Madathum Kuzhiyil Farsana, Vikram V. Holla, Debjyoti Dhar, Nishanth Gowda, Hansashree Padmanabha, Babylakshmi Muthusamy, Nitish Kamble, Dwarakanath Srinivas, Ravi Yadav, Pramod Kumar Pal; J Mov Disord. 2026;19(2):192-198. Published online December 17, 2025; DOI: https://doi.org/10.14802/jmd.25256

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Abstract PDF Supplementary Material: Objective
This study aimed to characterize the phenotypic spectrum and therapeutic outcomes of patients of Indian and Asian origin with DYT-TOR1A.
Methods
A retrospective chart review of patients with genetically confirmed DYT-TOR1A (c.907_909delGAG; p.Glu303del variant) from a tertiary care center in India.
Results
Twelve patients (11 males, 91.7%) with a median age at disease onset of 10.5 years (range, 8–17 years) and a disease duration of 5 years (range, 2 months–31 years) were included. All patients had an isolated and progressive dystonia phenotype. Eight patients (66.7%) had a disease onset in childhood, and limb involvement at disease onset was noted in 10 (83.3%) patients. Five patients (41.7%) underwent bilateral globus pallidus internus deep brain stimulation within a median duration of 4 years (range, 2.5–6.5 years) from onset, with significant improvement.
Conclusion
This Indian patient cohort showed a strong male predominance and consistent early involvement of the upper limbs. A shorter disease course accompanied by greater severity highlights the need for early recognition and potential surgical intervention.

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; J Mov Disord. 2026;19(1):19-30. Published online August 19, 2025; DOI: https://doi.org/10.14802/jmd.25132

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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.

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

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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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