Identification and functional characterization of novel mutations including frameshift mutation in exon 4 of CSF1R in patients with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia

ConclusionsThe detection of theCSF1R mutation outside of the region-encoding TKD may extend the genetic spectrum of ALSP withCSF1R mutations. Mutational analysis of all the coding exons ofCSF1R should be considered for patients clinically suspected of having ALSP.

Source: Journal of Neurology - August 22, 2018 Category: Neurology Source Type: research