A.6 CSF1R-related adult-onset leukodystrophy with axonal spheroids and pigmented glia (ALSP) presenting as corticobasal syndrome (CBS): a case report and literature review
Bibliographic record
Abstract
Background: Colony stimulating factor 1 receptor (CSF1R) mutations have various clinical, often overlapping, phenotypes. Methods: Case report and literature review. Results: We present a case of a previously independent 49-year-old woman with a 3-year history of early- and insidious-onset, rapidly progressive symptoms resembling CBS (parkinsonism, severe apraxia, global cognitive impairments, personality changes, depression, and functional decline). Brain MRI showed severe atrophy with frontoparietal predilection, asymmetric ex vacuo dilatation, atrophic corpus callosum, and patchy, asymmetric T2/FLAIR hyperintensities in the subcortical white matter. Spine MRI showed no cord signals. Brain MR spectroscopy revealed elevated choline with reduced N-acetyl-aspartate levels. The vasculitis screening, and leukodystrophy and CADASIL workups were all unremarkable. Finally, whole exome sequencing was done and a heterozygous variant of CSF1R (c.1735C>T, p.Arg579Trp) was found. Conclusions: Our patient’s novel CSF1R variant was found to be associated with ALSP. This report supports the utility of a comprehensive genetic testing in adult patients clinically presenting as CBS but with white matter abnormalities on T2-weighted MRI. Given that ALSP has several other clinical and radiologic mimickers, whole exome sequencing proves fundamental and can improve the diagnostic rates and understanding of ALSP. A well-informed diagnosis can lead to appropriate preventive genetic counseling to affected families.
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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 | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.006 | 0.004 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.004 | 0.002 |
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".