Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia Caused by a Novel R782G Mutation in CSF1R

摘要: We report a new family with autosomal dominant inheritance of late onset rapidly progressive leukodystrophy in which exome sequencing has revealed novel mutation p.R782G the Colony-Stimulating Factor 1 Receptor gene (CSF1R). Neuropathology two affected members showed cerebral white matter degeneration axonal swellings and pigmented macrophages. The few recently reported families CSF1R mutations had been previously labelled “hereditary diffuse leukencephalopathy spheroids” (HDLS) “pigmentary orthochromatic leukodystrophy” (POLD), disorders now appear to form disease continuum. term “adult-onset leukoencephalopathy spheroids glia” (ALSP) proposed encompass this spectrum. As regulates microglia implies that dysregulation is primary cause disease.