ALSP is a rare, rapidly progressing fatal neurologic disorder commonly caused by dominant variants in the CSF1R gene. Demyelination of brain white matter, swollen axons and pigmented glial cells are the pathological hallmarks of this disorder. ALSP is characterized by a constellation of symptoms including personality changes, cognitive dysfunction and motor impairments, which can mimic several neurodegenerative diseases and thus is often difficult to diagnose. Treatment options for ALSP are limited. Furthermore, limited natural history data are available to inform clinical trial design of novel therapeutics.

This was a retrospective, multicenter, natural history study of patients diagnosed with ALSP. Data including demographics, medical/clinical history, diagnostic results, interventions/medications and MRI were acquired through retrospective review of EHR/medical records of deidentified patients. MRI severity score (Sundal et al. 2012), white matter lesion and regional brain volumes were derived for available MRI exams.

Recognition of the differential MRI patterns of ALSP may improve diagnostic evaluation. Qualitative and quantitative measures of MRI disease severity demonstrate potential as sensitive outcome measures in therapeutic intervention studies in ALSP.