Never Late: Cerebrotendinous Xanthomatosis and Improvements in Neurocognitive Functions in an Adult Patient on Chenodeoxycholic Acid Treatment
Bibliographic record
Abstract
Cerebrotendinous xanthomatosis (CTX) is an inherited metabolic disease due to biallelic pathogenic variants in CYP27A1. We report a newly diagnosed patient and the outcome of the chenodeoxycholic acid (CDCA) treatment. This is a 36-year-old male with progressive lower limb spasticity, learning difficulties, and early cataracts. He was diagnosed by targeted next generation sequencing panel for hereditary spastic paraparesis (c.379C>T; p.Arg127Trp and c.1072C>T; p.Gln358* in CYP27A1) with CTX at the age of 33 years. Brain and spine magnetic resonance imaging (MRI) revealed increased T2 signal intensity in the dentate nuclei and bilateral posterolateral spinal cord. Baseline plasma 7a-hydroxy-4-cholesten-3-one (> 5; ref. range < 0.300 nmol/mL) and 7a,12a dihydroxycholest-4-en-3-one (> 5; ref. range < 0.100 nmol/mL) were markedly elevated. Baseline full-scale IQ was 69. The CDCA treatment (750 mg/day) was started at the age of 34 years. Plasma 7a-hydroxy-4-cholesten-3-one level was normalized; plasma 7a,12a dihydroxycholest-4-en-3-one level was markedly improved (0.755 nmol/mL; ref. range < 0.1) and full-scale IQ improved to 83 at two years of the CDCA treatment. This patient highlights improvements in neurocognitive functions despite late diagnosis and late initiation of treatment and exemplifies the importance of diagnosing a treatable disease at any age to improve neurocognitive outcomes.
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 0.000 |
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 teacher head, 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".