Adult-onset Krabbe disease due to a homozygous GALC mutation without abnormal signals on an MRI in a consanguineous family: A case report.
Zhou XiaYin WenwenYu XianfengHu PanpanZhu XiaoqunZhongwu SunPublished in: Molecular genetics & genomic medicine (2020)
This patient with a homozygous GALC mutation expands the clinical presentation and characteristics of adult-onset KD, as indicated by grey matter atrophy without abnormal white matter signals.