Phenotypic features of adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP): presenting symptoms and clinical course

ALSP is an underdiagnosed, rapidly progressive, fatal autosomal dominant neurodegenerative disease caused by CSF1R gene mutations that result in microglial dysfunction. There are no published prospective studies on the natural history of ALSP. As a result, descriptions of phenotypic features of ALSP are derived from small case series and single case reports. To better understand the phenotypic characteristics of ALSP, a systematic literature review of these published case reports was performed.