Hematopoietic Stem Cell Transplantation in Late-Onset Krabbe Disease Halts Demyelination and Axonal Loss: A 4-Year Longitudinal Case Study (S38.002)
Bibliographic record
Abstract
OBJECTIVE: To examine the effect of allogeneic hematopoietic stem cell transplantation (HSCT) on myelin and axons in late-onset Krabbe disease 4 years post-procedure. BACKGROUND: Late-onset Krabbe disease is a rare demyelinating leukodystrophy. Historically, treatment was supportive until death (2-7 years). Recent research has focused on HSCT; one case study found HSCT halted symptom progression at 24 months post-HSCT. Conventional MRI can show brain lesions in Krabbe disease but not changes in the normal appearing white matter (NAWM). MRI techniques specific to myelin and axons can characterize pathology and provide insight into the effects of HSCT on the on-going disease processes. To our knowledge, this is the longest advanced imaging follow-up in late-onset Krabbe disease and the first report using high-field MRI. METHODS: A 42 year old female with late-onset Krabbe disease and an age/gender-matched control underwent 3.0T MRI (baseline, year 1, 2, 3, 4; baseline was immediately prior to HSCT for the Krabbe subject). Standard clinical scans, 3D myelin water imaging, diffusion tensor imaging (fibre characterization/white matter integrity) and magnetic resonance spectroscopy (brain metabolites including n-acetyl-aspartate (NAA), related to axons) were collected. RESULTS: At baseline, global NAWM of the Krabbe subject showed 30[percnt] less myelin, 20[percnt] reduced NAA, 10[percnt] reduced fractional anisotropy and 30[percnt] increased myo-Inositol (glial cell marker and osmolyte) compared to control. Conventional MRI showed no evidence of new disease activity 4 years post-HSCT. All advanced imaging measures remained stable from baseline to year 4 in both the Krabbe subject and the control. CONCLUSIONS: HSCT in late-onset Krabbe disease halts demyelination and axonal loss up to 4 years post-HSCT. A global process of NAWM damage occurs in late-onset Krabbe disease beyond the findings visible on conventional MRI, with myelin being more affected than axons. However, damage did not worsen over time, supporting HSCT as an effective treatment strategy.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.001 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.002 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.002 | 0.002 |
| Insufficient payload (model declined to judge) | 0.001 | 0.001 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".