DTI in Leukoencephalopathy with Brainstem and Spinal cord involvement and elevated Lactate (LBSL): Local strongly increased FA and reduced diffusivity as well as globally reduced FA and increased diffusivity

Introduction. Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) is an inherited white matter disorder first recognized in 2003 by its distinct pattern of MRI abnormalities, including involvement of cerebral white matter, pyramidal and sensory tracts over their entire extent (including the spinal cord), and specific brain stem structures [1]. The disease gene was shown to be DARS2, which encodes mitochondrial aspartyl-tRNA synthetase [2]. The pathological basis of the disease has remained unknown until now. To gain insight into tissue microstructure, the emphasis of this study was on high-resolution DTI in LBSL.