Multiparametric in vivo analyses of the brain and spine identify structural and metabolic biomarkers in men with adrenomyeloneuropathy.
Neuroimage Clin
; 29: 102566, 2021.
Article
em En
| MEDLINE
| ID: mdl-33516063
ABSTRACT
OBJECTIVE:
Progressive myelopathy causes severe handicap in men with adrenomyeloneuropathy (AMN), an X-linked disorder due to ABCD1 pathogenic variants. At present, treatments are symptomatic but disease-modifying therapies are under evaluation. Given the small effect size of clinical scales in AMN, biomarkers with higher effect size are needed. Here we used high-resolution magnetic resonance techniques to identify non-invasive in vivo biomarkers of the brain and spine with high effect sizes.METHODS:
We performed a multiparametric imaging and spectroscopy study in 23 male patients with AMN (age 44 ± 11) and 23 male controls (age 43 ± 11) of similar age and body-mass index. We combined (i) macrostructural analyses of the spine, using cross-sectional area (CSA) and magnetization transfer ratio (MTR), (ii) microstructural analyses of the spine and the brain, using diffusion tensor and the newly developed fixel-based analysis, and (iii) advanced metabolic analyses of the spine using metabolite cycling coupled to a semi-LASER sequences.RESULTS:
Macrostructural alterations (decrease in CSA and MTR) were observed in patients at all spinal cord levels studied (C1-T2 for CSA and C1-C5 for MTR) (p < 0.001). Microstructural alterations were observed in the spine and brain on diffusion tensor and fixel-based metrics though the latter showed higher effect sizes. Metabolic alterations were observed in patients as a decreased total N-acetylaspartate/myo-inositol ratio (p < 0.001). Overall, MTR showed the highest effect size.CONCLUSION:
This cross-sectional study supports the use of multiparametric techniques that elucidate the structural, microstructural and metabolic alterations in AMN. These outcome measures should be tested longitudinally and in clinical trials.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Adrenoleucodistrofia
Tipo de estudo:
Observational_studies
/
Prevalence_studies
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Risk_factors_studies
Limite:
Adult
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Humans
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Male
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Middle aged
Idioma:
En
Revista:
Neuroimage Clin
Ano de publicação:
2021
Tipo de documento:
Article
País de afiliação:
França