J Mov Disord.  2025 Apr;18(2):170-174. 10.14802/jmd.25004.

CSF1R-Related Adult-Onset Leukoencephalopathy With Axonal Spheroids: A Case Series of Four Asian Indian Patients

• Garg D
• Vaingankar A
• Gupta A
• Rajan R
• Garg A
• Agarwal A
• Mustafa F
• Radhakrishnan DM
• Pandit AK
• Vishnu VY
• Singh MB
• Bhatia R
• Srivastava AK

• KMID: 2567163
• DOI: http://doi.org/10.14802/jmd.25004

Abstract

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.

Keyword

CSF1R; AARS2; Leukoencephalopathy; Axonal spheroids and pigmented glia