A novel CSF1R variant in a South Dakota family with CSF1R-related leukoencephalopathy

Summary: This paper comprehensively reviews the various aspects of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), including genetics, neuropathology, imaging findings, prevalence, clinical course, diagnosis/clinical evaluation, potential biomarkers, and current and proposed treatments. It also discusses potential efficacy endpoints for future clinical trials and the burden of the disease on patients and caregivers. The information in this paper lays a foundation for the development of therapeutic agents for ALSP and the design of future clinical trials with meaningful endpoints.