Miura T, et al. - In the present study, researchers identified CSF1R mutations in patients who were clinically suspected of having axonal spheroids and pigmented glia (ALSP) as well as determined the pathogenicity of novel CSF1R variants by analyzing data of 61 patients who fulfilled the diagnostic criteria of ALSP. Ten variants in CSF1R, including two novel frameshift, five novel missense, and two known missense mutations as well as one known missense variant, were identified in this analysis. Findings suggested that the detection of the CSF1R mutation outside of the region-encoding tyrosine kinase domain might extend the genetic spectrum of ALSP with CSF1R mutations. For patients clinically suspected of having ALSP, mutational analysis of all the coding exons of CSF1R should be considered.