Longitudinal quantitative magnetic resonance imaging in adrenomyeloneuropathy

Background and purpose Adrenomyeloneuropathy (AMN) is the most frequent metabolic hereditary spastic paraplegia. Accordingly, its main site of pathological changes is the spinal cord. It is difficult to quantify AMN progression because commonly used clinical scales have limitations and reliable biomarkers are lacking. The goal was to investigate whether spinal cord and brain quantitative magnetic resonance imaging may assess structural changes in AMN over a relatively short time period. Methods In this longitudinal observational study, the total cord areas (TCAs) from the C2–C3 to T2–T3 level and diffusion tensor imaging (DTI) metrics of the cervical spinal cord and brain portion of the corticospinal tracts in six AMN and six age‐matched control subjects at baseline and at a mean follow‐up of 22.6 months were assessed. Results A significant reduction of the mean TCA at the T1–T2 level (−3.79%) and a trend of reduction at the lowest cervical levels were observed only in AMN patients. Additionally, DTI metrics revealed significant changes in fractional anisotropy (−8.84%), mean diffusivity (+12.62%) and radial diffusivity (+25.91%) at the C2–C3 level. Discussion The study encourages the assessment of TCAs and spinal cord DTI metrics as surrogate outcome measures in AMN, by focusing on the cervical–thoracic junction and the uppermost part of the cervical spinal cord. Despite the limitation of the results due to the small number of investigated subjects, these observations are useful for forthcoming clinical trials in AMN and possibly other hereditary diseases with predominant spinal cord involvement.