CSF1R-Related Adult-Onset Leukoencephalopathy With Axonal Spheroids: A Case Series of Four Asian Indian Patients
- Author:
Divyani GARG
1
;
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
Author Information
- Publication Type:12
- From:Journal of Movement Disorders 2025;18(2):170-174
- CountryRepublic of Korea
- Language:English
-
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.
