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Letters to the editor
- TBC1D2B-Related Neurodevelopmental Disorder With Gingival Overgrowth and Movement Disorders: A Case Series and Literature Review
- Farsana Mustafa, Jacky Ganguly, Ayush Agarwal, Sayoni Roy Chowdhury, Surojit Ruidas, Ajay Garg, Debayan Dutta, Divya M Radhakrishnan, Hrishikesh Kumar, Achal Kumar Srivastava, Divyani Garg
- J Mov Disord. 2026;19(3):356-359. Published online June 30, 2026
- DOI: https://doi.org/10.14802/jmd.26091
- 437 View
- 42 Download
- The Landscape of Parkinson’s Disease Treatment in India: A National Cross-Sectional Survey of Clinical Practitioners
- Roopa Rajan, Hrishikesh Kumar, Divya M. Radhakrishnan, Divyani Garg, Shreyashi Jha, Jacky Ganguly, Sreenivas U. Meenakshisundaram, Niraj Kumar, Vikram V. Holla, Soaham Desai, Ravi Yadav, Achal Kumar Srivastava, Asha Kishore, Pramod Kumar Pal
- J Mov Disord. 2026;19(2):212-216. Published online September 11, 2025
- DOI: https://doi.org/10.14802/jmd.25201
- 2,957 View
- 150 Download
- 1 Web of Science
- 1 Crossref
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Supplementary Material -
Citations
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- Pallidotomy for severe Parkinson’s disease dyskinesia and other motor features in a resource-limited setting: the Philippine experience and review of the literature
John Paul Cruz, Paulo Cataniag, Ma. Janielou Ocampos, Julius Mancol, Dexter Dimaano, Jed Noel Ong, Rosalia Teleg, Jean Quint Oropilla, Cid Czarina Diesta, Gerard Saranza
Journal of Neural Transmission.2026;[Epub] CrossRef
- Pallidotomy for severe Parkinson’s disease dyskinesia and other motor features in a resource-limited setting: the Philippine experience and review of the literature
Teaching Video
- Rotatory “Head on Bed” Alleviates Pantothenate Kinase-Associated Neurodegeneration
- Farsana Mustafa, Divyani Garg, Abhishek Mudda, Sreeja Samineni, Ayush Agarwal, Achal Kumar Srivastava
- J Mov Disord. 2026;19(1):117-118. Published online July 30, 2025
- DOI: https://doi.org/10.14802/jmd.25200
- 1,368 View
- 69 Download
Brief communication
- 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
- 5,058 View
- 102 Download
- 2 Web of Science
- 2 Crossref
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Abstract
PDFSupplementary 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. -
Citations
Citations to this article as recorded by- A novel mutation in colony-stimulating factor 1 receptor (CSF1R) causing CSF1R-related disorder (CSF1R-RD)
Anup N. Sonti, Elizabeth Joe, Jillian V. Berry, Michelle McDonnell, Seyed Ahmad Sajjadi, Nasim Sheik-Bahaei, Lilyana Amezcua, Danielle Feigenbaum, Mark F. Lew, Matthew Blurton-Jones, Elizabeth Head, John M. Ringman
Neurocase.2026; 32(1): 13. CrossRef - Movement Disorders in CSF1R-Related Leukoencephalopathy: A Case Series
Nitish Kamble, RS Harishma, Vikram V Holla, Shweta Prasad, Jitender Saini, Pramod K Pal
Annals of Indian Academy of Neurology.2025; 28(4): 596. CrossRef
- A novel mutation in colony-stimulating factor 1 receptor (CSF1R) causing CSF1R-related disorder (CSF1R-RD)
Letters to the editor
- 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
- 2,827 View
- 71 Download
- 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
- 4,538 View
- 169 Download
- 1 Web of Science
- 2 Crossref
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PDFSupplementary Material
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Citations
Citations to this article as recorded by
- 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
- 4,877 View
- 59 Download
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