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
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.
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