Adult-onset leukoencephalopathy with homozygous LAMB1 missense mutation

Abstract

LAMB1 encodes laminin subunit beta 1, a constituent of the extracellular matrix glycoprotein of basement membranes.(1) Mutations of LAMB1 have been reported in patients with congenital or infantile- to childhood-onset leukoencephalopathy and severe developmental retardation.(2,3) We report an adulthood-onset case with mild leukoencephalopathy and a novel homozygous LAMB1 missense mutation. Our findings expand the clinical spectrum of LAMB1-related disorder.