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- 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
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Abstract
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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. -
Citations
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- 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)
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