title: [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.
authors.affiliation: Department of Neurology, Faculty of Medicine, University of Tsukuba.
authors.forename: Akira
authors.initials: A
authors.lastname: Tamaoka
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D003704:Dementia; D006801:Humans; D056784:Leukoencephalopathies / Q000000981:diagnostic imaging / Q000473:pathology* / Q000628:therapy; D017628:Microglia / Q000473:pathology; D008875:Middle Aged; D066127:White Matter / Q000000981:diagnostic imaging / Q000473:pathology; D055815:Young Adult