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Multimodal quantitative MRI finds early brain changes in asymptomatic X-linked adrenoleukodystrophy.

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Paper

Loaded from Europe PMC by your browser, not stored by OSCR: doi.org · Europe PMC

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The authors' code

Shell · 35 lines · 1.7 KB · CC0-1.0

  1. #!/bin/sh
  2. datadir="/media/sf_MRI-Data/Projects"
  3. project=${1}
  4. vnum=${2}
  5. hum_num=${3}
  6. datadir=${datadir}/${project}/${vnum}/${hum_num}
  7. bids=${vnum}_${hum_num}
  8. echo ${datadir}
  9. if [ -f ${datadir}/seg/${bids}-tfl.nii.gz ];then
  10. echo "seg/tfl file found"
  11. fi
  12. if [ -f ${datadir}/seg/*${bids}-tse.nii.gz ];then
  13. echo "seg/tse file found"
  14. fi
  15. ${FSLDIR}/bin/bet ${datadir}/seg/${bids}-tfl.nii.gz ${datadir}/seg/${bids}-tfl_brain
  16. echo brain extraction done
  17. ${FSLDIR}/bin/flirt -dof 6 -searchcost mutualinfo -nosearch -in ${datadir}/seg/${bids}-tfl_brain -ref ./etc/mni-derived/MNI2SW_T1_1mm_brain -out ${datadir}/acpc/${bids}-tfl_brain -omat ${datadir}/acpc/${bids}-tfl_brain.mat
  18. echo Registred to MNI
  19. ${FSLDIR}/bin/flirt -applyxfm -init ${datadir}/acpc/${bids}-tfl_brain.mat -in ${datadir}/seg/${bids}-tfl.nii.gz -ref ./etc/mni-derived/MNI2SW_T1_1mm_brain -out ${datadir}/acpc/${bids}-tfl
  20. echo Done TurboFLASH
  21. echo --------------------------------------------------------------
  22. echo "Co-registering TSE to TurboFlash"
  23. ${FSLDIR}/bin/bet ${datadir}/seg/${bids}-tse ${datadir}/seg/${bids}-tse_brain -f 0.4
  24. echo brain extraction done
  25. # do bet on TFL again on standard for better performance
  26. ${FSLDIR}/bin/bet ${datadir}/acpc/${bids}-tfl ${datadir}/acpc/${bids}-tfl_brain
  27. ${FSLDIR}/bin/flirt -dof 6 -searchcost mutualinfo -nosearch -in ${datadir}/seg/${bids}-tse_brain -ref ${datadir}/acpc/${bids}-tfl_brain -out ${datadir}/acpc/${bids}-tse_brain -omat ${datadir}/acpc/${bids}-tse_brain.mat
  28. echo Registred to MNI
  29. ${FSLDIR}/bin/flirt -applyxfm -init ${datadir}/acpc/${bids}-tse_brain.mat -in ${datadir}/seg/${bids}-tse -ref ${datadir}/acpc/${bids}-tfl_brain -out ${datadir}/acpc/${bids}-tse
  30. echo Done TSE

1_seg_acpc.sh at commit 8fb4d31, under CC0-1.0 · at the source

Overview

Authors: Kolja Meier1,2, Prativa Sahoo1, Lara Maleen Marten1, Irini Gkalimani1, Gunther Helms3, Peter Dechent2,4, Hendrik Rosewich1,2,5, Steffi Dreha-Kulaczewski1,2, Jutta Gärtner1,2
ORCID iDs: Kolja Meier
  1. Department of Pediatrics and Adolescent Medicine, University Medical Center Goettingen, Goettingen 37075, Germany
  2. German Center for Child and Adolescent Health (DZKJ), Partner Site Goettingen, Goettingen 37075, Germany
  3. Department of Clinical Sciences Lund, Lund University, Lund 221 85, Sweden
  4. Department of Cognitive Neurology, MR Research in Neurosciences, University Medical Center Goettingen, Goettingen 37075, Germany
  5. Department of Neuropaediatrics, University Hospital Tuebingen, Tuebingen 72076, Germany
Journal: Brain communications, volume 8, issue 5, article fcag311
Dates: received 2 December 2025; accepted 22 July 2026; published online 29 August 2026
Type: Research article · Language: English
License: CC BY
Identifiers: DOI 10.1093/braincomms/fcag311 · PMID 42712783 · PMCID PMC13550773 · OpenAlex W7204642161
Open access: gold, a free copy (OpenAlex)
Status: code verified
Categories: structural MRI / diffusion (modality), human (organism), clinical / translational (subfield)
Methods: Statistics, fMRI & imaging
Keywords: adrenoleukodystrophy, multimodal imaging, quantitative MRI, biomarker, neurodegeneration
Topic: Peroxisome Proliferator-Activated Receptors (Molecular Biology, Biochemistry, Genetics and Molecular Biology), according to OpenAlex
Funding: Deutsche Forschungsgemeinschaft; CREST (TRR274); Germany’s Excellence Strategy (EXC 2067/1- 390729940); DFG Project ID (374011584/3T); Ganzkörper MR-Tomograf; German Center for Child and Adolescent Health; Bundesministerium für Bildung, Wissenschaft, Forschung und Technologie (Federal Ministry for Education, Science, Research and Technology) (01GL2402); Research program; University Medical Center Hamburg-Eppendorf; University of Goettingen
Citations: not cited yet (Europe PMC); 68 references in the paper

Abstract

Adrenoleukodystrophy (ALD) is an X-linked recessive disease caused by defects in the ABCD1 gene, leading to the accumulation of very long-chain fatty acids in the nervous system, adrenal glands, blood and other tissues. Male ALD patients may present with either the severe neurological phenotype of cerebral ALD, characterized by inflammatory demyelination in the white matter and rapid neurological deterioration, or milder forms, such as adrenomyeloneuropathy. We aimed to identify early brain changes in asymptomatic ALD patients prior to the clinical onset of cerebral ALD or adrenomyeloneuropathy by exploratory analysis of multimodal MRI data. Multimodal MRI data—including structural images, diffusion tensor imaging, magnetization transfer imaging and MR spectroscopy—were obtained from asymptomatic ALD patients during regular follow-up MRIs. Longitudinal MRI data were analysed from 12 asymptomatic ALD patients aged 10–18 years who did not develop a cerebral ALD phenotype during our surveillance and from 12 healthy age-matched male controls. Volumetric analyses of brain structures were performed using structural MRI data, as well as region-of-interest measurements on diffusion tensor imaging, magnetization transfer imaging and MR spectroscopy data. Statistical analysis was performed using linear mixed-effects models. Volumetry indicated increased white matter volume in asymptomatic ALD patients. Diffusion tensor imaging analysis revealed increased values of radial and mean diffusivity in the supratentorial white matter. Magnetization transfer saturation values derived from magnetization transfer imaging metrics were increased in the cortical and subcortical grey matter, but not in the white matter. MR spectroscopy showed increased inositol levels in the frontal white matter. Our diffusion tensor imaging and MR spectroscopy data indicate early white matter pathology in adolescent asymptomatic ALD patients. Among these findings, increased white matter volume and, in addition, elevated magnetization transfer saturation values in the grey matter are novel MRI phenotypes associated with asymptomatic ALD. These results suggest that not only white matter but also grey matter can be pathologically altered even before the onset of neurological phenotypes. Multimodal MRI parameters therefore constitute promising biomarkers for the assessment of pre-symptomatic brain tissue alterations in ALD and may be useful in future clinical studies targeting early therapeutic intervention.

Reproduced under the paper's license (CC BY), from the paper cited above.

Repository

Its files are read in the Code ↔ Paper reader above.

helms-man/MTsat-processing-FSL

License: CC0-1.0
State: the link answers, verified on 27 September 2026
Evidence: files inventoried
Commit: 8fb4d31737272eb86ecb832b41ccba5257d0d5d3, 24 March 2026
Languages: Shell (5)
Size: 8 files, 5 scripts
Software Heritage: not archived
Found in: “Data availability”
Holds: README, license file
Not found: CITATION.cff, environment file, tests, continuous integration, documentation
Tools: FSL (3 files)
Availability: 1 check, the latest on 27 September 2026: the link answers
  • 27 September 2026: the link answers
7 files

The paper's code and data availability statement is in the Data section.

Tracing map

Proposed by the machine: these links were found in the paper and verified at the source, without human review. The map will receive a Zenodo DOI once one of the paper's authors has validated it with their ORCID.

What the map holds:

  • 1 repository of the authors' code, each at its verified commit, with its license and how the link was found in the paper;
  • 5 scripts, each with its path and the digest of its content;
  • no match between paragraphs and code yet;
  • neither the text of the paper nor the code itself.

Its JSON (tracing-map.json) is deposited on Zenodo with its DOI once the map is validated.

Data

No dataset and no data link were found in the paper.

Data availability

The data that support the findings of this study are available to qualified investigators for non-commercial academic purposes by contacting the corresponding author. The data are not publicly available to protect the privacy of research participants. The code for processing the MTsat maps can be found at https://github.com/helms-man/MTsat-processing-FSL. The R-scripts that were used to analyse the data and the scripts used to analyse the DTI data are in the Supplementary material.

Reproduced under the paper's license (CC BY), from the paper cited above.

Versions

The history of this record: each version stored by the harvester or made by a correction of its authors or of the maintainers of its code, and what changed in its facts. The texts of the paper (its abstract, its availability statements) are not part of it; versions that changed only those are not listed.

Version 1, 27 September 2026: the first record

Recorded: type, language, journal, volume, issue, pages, dates, 9 authors, 5 keywords, 10 funders, 67 references.

Cite

This paper

Meier, K., Sahoo, P., Marten, L. M., Gkalimani, I., Helms, G., Dechent, P., Rosewich, H., Dreha-Kulaczewski, S., & Gärtner, J. (2026). Multimodal quantitative MRI finds early brain changes in asymptomatic X-linked adrenoleukodystrophy. Brain communications, 8(5), fcag311. https://doi.org/10.1093/braincomms/fcag311

BibTeX

@article{meier2026multimodal,
author = {Meier, Kolja and Sahoo, Prativa and Marten, Lara Maleen and Gkalimani, Irini and Helms, Gunther and Dechent, Peter and Rosewich, Hendrik and Dreha-Kulaczewski, Steffi and Gärtner, Jutta},
title = {{Multimodal quantitative MRI finds early brain changes in asymptomatic X-linked adrenoleukodystrophy}},
journal = {Brain communications},
year = {2026},
month = aug,
volume = {8},
number = {5},
pages = {fcag311},
publisher = {Oxford University Press},
issn = {2632-1297},
doi = {10.1093/braincomms/fcag311},
url = {https://doi.org/10.1093/braincomms/fcag311},
pmid = {42712783},
pmcid = {PMC13550773}
}

RIS

TY - JOUR
AU - Meier, Kolja
AU - Sahoo, Prativa
AU - Marten, Lara Maleen
AU - Gkalimani, Irini
AU - Helms, Gunther
AU - Dechent, Peter
AU - Rosewich, Hendrik
AU - Dreha-Kulaczewski, Steffi
AU - Gärtner, Jutta
TI - Multimodal quantitative MRI finds early brain changes in asymptomatic X-linked adrenoleukodystrophy
T2 - Brain communications
J2 - Brain Commun
PY - 2026
DA - 2026/08/29
VL - 8
IS - 5
SP - fcag311
SN - 2632-1297
PB - Oxford University Press
DO - 10.1093/braincomms/fcag311
UR - https://doi.org/10.1093/braincomms/fcag311
LA - en
ER -

CSL-JSON

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"container-title": "Brain communications",
"author": [
{
"family": "Meier",
"given": "Kolja"
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"PMCID": "PMC13550773",
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"issued": {
"date-parts": [
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