Identifying factors predictive of a specific pathogenic cause of adult-onset leukopathy

Takeaway

  • In people with suspected adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, factors such as parkinsonism and thinning of the corpus callosum are predictive of the presence of a colony-stimulating factor 1 receptor (CSF1R) mutation.

Why this matters

    It is unfeasible to perform CSF1R testing in all patients with leukoencephalopathy – these findings provide information to help prioritize people for CSF1R testing.