Frontiers in Radiology · Published 2026-07-15 · DOI 10.3389/fradi.2026.1826170
Majid Reza Tahsini, Marzena Wylezinska-Arridge, Mohammad Zare, Sasan Saket, Mohammad Aidin Farahvash, Mahdis Morovvati, Elham Rahimian, Sotirios Bisdas
PurposeCanavan disease (CD) is a leukodystrophy marked by deficiency in the aspartoacylase enzyme and accumulation of N-acetyl aspartate (NAA) in the white matter. MRI and MRS are crucial diagnostic tools for CD. MRS shows a distinctive, significant elevation of the NAA peak, which is typically not quantified and thus not objectively assessed as a diagnostic criterion. This study aimed to establish quantitative cutoff values for the elevated NAA peak on proton MR spectroscopy (1H-MRS) in patients with CD and hence, incorporate MRS into the diagnostic algorithm.MethodsA cross-sectional retrospective diagnostic study involving 18 confirmed CD cases and 10 healthy individuals was conducted to assess metabolic profiles and determine a diagnostic cutoff for NAA in CD. 1H MRS (TE: 135 ms) was utilized, and data were post-processed using specialized software to quantify the ratios of the three primary metabolites: NAA, Cho, and Cr.ResultsThe analysis of the CD cases demonstrated substantial elevation in NAA levels compared to the standard control group with the NAA/Cr and NAA/Cho ratios significantly increased in CD patients compared to controls (p < 0.001 for both). Diagnostic cut-off values of 2.75 for NAA/Cr and 7.18 for NAA/Cho yielded an optimism-corrected AUC = 0.96 (95% CI 0.95–1.00) after bootstrap validation.ConclusionThis study represents one of the larger single-center cohorts evaluating quantitative MRS metabolite ratios in Canavan disease and proposes preliminary diagnostic thresholds for improved diagnostic objectivity.
Abstract from DOAJ. Public domain (CC0 1.0).
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Tahsini, M., Wylezinska-Arridge, M., Zare, M., et al. (2026). Diagnostic value of quantitative MR spectroscopy metabolite ratios for Canavan disease. Frontiers in Radiology. https://doi.org/10.3389/fradi.2026.1826170