ArticleJournal of inherited metabolic disease2025
An Automated Analysis Tool for Diffusion Tensor Imaging-Based Quantitative MRI in X-Linked Adrenoleukodystrophy.
Article in Journal of inherited metabolic disease, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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Who cites it
1 citing paper in PubMed.
- An Automated Analysis Tool for Diffusion Tensor Imaging-Based Quantitative MRI in X-Linked Adrenoleukodystrophy.Journal of inherited metabolic disease · 2025Article
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Authors and funding
8 authors.
Funding
Abstract
X-linked adrenoleukodystrophy (X-ALD) is caused by ABCD1 pathogenic variants, leading to accumulation of very long-chain fatty acids (VLCFAs). Phenotypes include cerebral ALD (CALD) and adrenomyeloneuropathy (AMN). We assessed if quantitative MRI (qMRI) parameters from an automated tool (BrainQuant) could differentiate CALD from non-CALD and reflects myelopathy severity. Adult males from a prospective study (2015-2024) underwent annual neurological exams and brain MRI. Exclusion criteria were: fewer than two MRIs, non-ALD lesions, or prior transplantation. BrainQuant processed diffusion tensor imaging (DTI) to yield global metrics: fractional anisotropy (FA), mean diffusivity (MD), axial diffusivity (AD), and radial diffusivity (RD). Patients were stratified by Loes score (0 vs. > 0) and expanded disability status scale (EDSS ≤ 2 vs. > 2). Longitudinal changes were modeled. Correlations with EDSS, severity score for progressive myelopathy (SSPROM), and 6-min walk test (6-MWT) were analyzed. The cohort included 62 patients (median age 36.5); 15 had CALD. Global DTI metrics did not differ significantly between CALD and non-CALD. A trend for higher radial diffusivity (RD) in the splenium (p = 0.037) was seen, but results were not significant after Bonferroni correction for multiple comparisons (p = 0.748). Patients with EDSS > 2 showed significantly worse global DTI values (p < 0.05), correlating with clinical scores (r = 0.40-0.69). Longitudinally, RD-global increased significantly (p < 0.001) at similar rates across EDSS groups. BrainQuant qMRI did not distinguish CALD and non-CALD but effectively tracked myelopathy. Radial diffusivity (RD)-global is a promising biomarker for monitoring X-ALD progression.
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Registered trials
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