Movement Disorders in CSF1R-Related Leukoencephalopathy: A Case Series.

Abstract: CSF1R-related leukoencephalopathy is a rare, dominantly inherited leukoencephalopathy caused by mutations in the CSF1R gene that codes for colony-stimulating factor 1 receptor. We describe the clinical and neuroimaging features in three genetically confirmed cases (two women) of CSF1R-related leukoencephalopathy. The age at onset ranged from 41 to 45 years. Cognitive and behavioral disturbances were seen in all patients, and one patient had epilepsy. The movement disorders included parkinsonism, freezing of gait, cerebellar ataxia, tremors, etc., Pyramidal signs were noted in two patients. Magnetic resonance imaging of the brain showed signal changes in the white matter. Whole-exome sequencing revealed mutation in the CSF1R gene, confirming the diagnosis. A combination of rapidly progressive cognitive and behavioral disturbances with involvement of pyramidal, extrapyramidal, and characteristic neuroimaging suggests diagnosis. Currently, the treatment is symptomatic as there is no specific treatment for the disease and a multidisciplinary team is required for managing these patients. Hematopoietic stem cell transplantation has shown to benefit a few patients.