Association of neuroimaging scoring and clinical status in Korean patients with metachromatic leukodystrophy

Abstract

Abstract Metachromatic leukodystrophy (MLD) is a lysosomal storage disease caused by deficiency of arylsulfatase A, leading to progressive demyelination in the central and peripheral nervous systems and, causing gross motor deterioration. This study aimed to analyze data related to neuroimaging and clinical phenotypes of MLD patients according to disease subtype. Patients diagnosed with MLD based on arylsulfatase A enzymatic activity, demyelination in brain MR findings, and/or pathogenic mutations were enrolled in this study. The medical charts of patients with confirmed MLD were retrospectively reviewed. We used a modified MRI scoring system and clinical status using the analogous designed scale. We analyzed the correlation between MRI score and clinical status in the two groups divided by late-infantile and juvenile type, and specific neuroimaging lesions. We detected a positive relationship between clinical function deterioration and MRI score (rho 0.59, p 0.002) in patients with MLD. A stronger positive relationship between clinical score and brain MRI scoring (rho 0.700, p 0.003) was found in the late-infantile type than in the juvenile type. A strong relationship was also seen in groups with high signal intensities in the pons and basal ganglia, and cerebellar atrophy, but not in patients with lesions in the midbrain. MLD with a high MRI score is associated with poor clinical function. Correlating modified MRI scores and clinical function scale may help predict the prognosis of patients with MLD for identifying treatment options and increasing patientsʼ quality of life.