Journal of Movement Disorders

CSF1R-Related Adult-Onset Leukoencephalopathy With Axonal Spheroids: A Case Series of Four Asian Indian Patients: Divyani Garg, Abhishek Vaingankar, Anu Gupta, Roopa Rajan, Ajay Garg, Ayush Agarwal, Farsana Mustafa, Divya M Radhakrishnan, Awadh Kishor Pandit, Venugopalan Y Vishnu, Mamta Bhushan Singh, Rohit Bhatia, Achal Kumar Srivastava; J Mov Disord. 2025;18(2):170-174. Published online February 17, 2025; DOI: https://doi.org/10.14802/jmd.25004

Abstract PDF Supplementary Material: Objective
Colony-stimulating factor 1 receptor-related leukoencephalopathy (CSF1R-L) is a rare adult-onset leukoencephalopathy. Reports of CSF1R-L patients from the Indian subcontinent remain limited. We aimed to report four patients with genetically confirmed CSF1R-L from four Asian Indian families and described their clinical, molecular, and radiological features.
Methods
All patients underwent clinical examination, brain magnetic resonance imaging, and whole-exome sequencing to identify causative variants in the CSF1R gene. We also reviewed published reports of Indian patients with CSF1R-L.
Results
The age at enrollment ranged from 34 to 40 years. The duration of symptoms ranged from 11 months to 2 years. The chief clinical phenotype in three patients was a rapidly evolving cognitive-behavioral syndrome combined with atypical parkinsonism, and asymmetrical spastic tetraparesis was observed in one patient. We identified four different variants (three missense variants and one in-frame deletion). Radiological findings revealed white matter involvement and diffusion restriction involving the subcortical white matter and pyramidal tracts.
Conclusion
We expand the literature on CSF1R-L patients from India by reporting four new cases.

Spastic Paraplegia 82 in Two Asian Indian Siblings With PCYT2 Mutations: Anil Dash, Farsana Mustafa, Divyani Garg, Sreeja Samineni, Ayush Agarwal, Ajay Garg, Achal Kumar Srivastava; J Mov Disord. 2025;18(2):185-189. Published online January 31, 2025; DOI: https://doi.org/10.14802/jmd.24259

Clozapine-Induced Negative Myoclonus Leads to Recurrent Falls: A Case Report: Shiny Joy, Punith Saroja Bylappa, Divyani Garg, Ayush Agarwal, Achal Kumar Srivastava; J Mov Disord. 2025;18(1):99-100. Published online November 11, 2024; DOI: https://doi.org/10.14802/jmd.24207

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The First Indian Patient With Benign Hereditary Chorea due to a De Novo Mutation in the NKX2-1 Gene: Divyani Garg, Ayush Agarwal, Mohammed Faruq, Achal Kumar Srivastava; J Mov Disord. 2024;17(2):239-241. Published online February 29, 2024; DOI: https://doi.org/10.14802/jmd.23273

Jaw Opening Myoclonus in Subacute Sclerosing Panencephalitis: A New Phenotypic Observation: Divyani Garg, Vanshika Kakkar, Suvasini Sharma; J Mov Disord. 2024;17(1):106-108. Published online September 14, 2023; DOI: https://doi.org/10.14802/jmd.23158

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Jaw-Opening Myoclonus: A Rare and Distinctive Sign in Subacute Sclerosing Panencephalitis
Bhavani Madduluri, Suryaprabha Turaga, Yenni Harika, Sabeeha Naaz, S Arun
Annals of Indian Academy of Neurology.2025; 28(3): 469. CrossRef
Movement Disorders in Patients with Subacute Sclerosing Panencephalitis: A Systematic Review
Divyani Garg, Sahil Patel, Charulata S. Sankhla, Vikram V. Holla, Vijayashankar Paramanandam, Prashanth L. Kukkle, Sanjay Pandey, Susanne A. Schneider, Pramod K. Pal
Movement Disorders Clinical Practice.2024; 11(7): 770. CrossRef

Periodic Jaw-Opening Myoclonus in Subacute Sclerosing Panencephalitis: Divyani Garg, Ashna Kumar, Suvasini Sharma; J Mov Disord. 2023;16(2):210-212. Published online April 26, 2023; DOI: https://doi.org/10.14802/jmd.23015

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Citations to this article as recorded by

Jaw-Opening Myoclonus: A Rare and Distinctive Sign in Subacute Sclerosing Panencephalitis
Bhavani Madduluri, Suryaprabha Turaga, Yenni Harika, Sabeeha Naaz, S Arun
Annals of Indian Academy of Neurology.2025; 28(3): 469. CrossRef
Jaw Opening Myoclonus in Subacute Sclerosing Panencephalitis: A New Phenotypic Observation
Divyani Garg, Vanshika Kakkar, Suvasini Sharma
Journal of Movement Disorders.2024; 17(1): 106. CrossRef
Movement Disorders in Patients with Subacute Sclerosing Panencephalitis: A Systematic Review
Divyani Garg, Sahil Patel, Charulata S. Sankhla, Vikram V. Holla, Vijayashankar Paramanandam, Prashanth L. Kukkle, Sanjay Pandey, Susanne A. Schneider, Pramod K. Pal
Movement Disorders Clinical Practice.2024; 11(7): 770. CrossRef
Subacute sclerosing panencephalitis presenting as repeated extension of the neck: A case report
Ravindra Kumar Garg, Imran Rizvi, Vikas Prabhu, Neeraj Kumar, Hardeep S. Malhotra, Praveen K. Sharma
Annals of Movement Disorders.2024; 7(2): 138. CrossRef

Opsoclonus-Myoclonus Syndrome as a Heralding Feature of Scrub Typhus: An Illustrative Case with a Video Vignette: Divyani Garg, Rajinder K. Dhamija; J Mov Disord. 2022;15(1):80-82. Published online May 3, 2021; DOI: https://doi.org/10.14802/jmd.20148

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Scrub typhus‐associated movement and gait disorders: A systematic review with principal component analysis and in silico mechanistic modelling
Ritwick Mondal, Shramana Deb, Mrinmay Dhauria, Purbita Sen, Vramanti Sarkar, Shramana Sarkar, Dipanjan Chowdhury, Durjoy Lahiri, Jayanta Roy, Julián Benito‐León
Tropical Medicine & International Health.2025; 30(6): 459. CrossRef
Neurological facets of scrub typhus: A comprehensive narrative review
Divyani Garg, Abi Manesh
Annals of Indian Academy of Neurology.2021; 24(6): 849. CrossRef

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