Magnetic resonance spectroscopy as marker for neurodegeneration in X-linked adrenoleukodystrophy.

ABSTRACT: X-linked adrenoleukodsytrophy (ALD) is a genetic neuro-metabolic disorder, causing a slowly progressive myelopathy in adult male and female patients. New disease modifying therapies for myelopathy are under development. This calls for new (imaging) markers able to measure disease severity and progression in clinical trials. In this prospective cohort study, we measured cerebral metabolite levels with Magnetic Resonance Spectroscopy (MRS), and evaluated their potential as biomarkers for disease severity and neurodegeneration in ALD. We used a comprehensive protocol of 3T Magnetic Resonance Spectroscopic Imaging (MRSI) and 7T Single Voxel Spectroscopy (SVS) in a large cohort of adult ALD males without cerebral demyelination. One hundred seven baseline scans - 59 obtained in ALD patients (42

SUBMITTER: van de Stadt SIW 

PROVIDER: S-EPMC8405970 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature