Hereditary Diffuse Leukoencephalopathy with Spheroids (HDLS): Clinical Characteristics and Pathomechanistic Insights

Abstract

Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a rare autosomal dominant disease characterized by neuroaxonal swellings (spheroids) within cerebral white matter. Patients with HDLS show variable symptoms, and have mutations in the protein kinase domain of the colony-stimulating factor 1 receptor (CSF1-R) gene. Currently, more than 50 pathogenic CSF1-R mutations have been reported in patients with HDLS. This manuscript aimed to essentially review clinical characteristics and molecular mechanisms underlying HDLS pathogenesis.