Michael S. Marshall

Neuropathologic Features of Adult-Onset Progressive Leukodystrophy Due to KARS Pathogenic Variants

Objectives To report the histopathologic features seen in congenital deafness and adult-onset leukoencephalopathy (DEAPLE) caused by biallelic pathogenic variants in KARS and expand on neuroradiologic features reported in other cases. Methods We present the clinical, neuroimaging, and histopathologic findings of a pati...