Adrenoleukodystrophy (ALD)
https://www.sciencedirect.com/science/article/pii/S2213158221002370
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, they measured cerebral metabolite levels with Magnetic Resonance Spectroscopy (MRS), and evaluated their potential as biomarkers for disease severity and neurodegeneration in ALD. The results imply that cerebral metabolite levels – and more specifically the tNAA/tCr ratio – measured with MRS, have potential value as (imaging) biomarkers in ALD.