Cadasil syndrome: a case report
Bibliographic record
Abstract
Introduction: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a genetic disease with an autosomal dominant transmission due to pathogenic variants in the NOTCH3 gene on chromosome 19. This condition causes angiopathy and is associated with high risks of strokes and vascular dementia in young adults. The present case reports a 60-year-old woman with the diagnosis of this condition after moderate cognitive impairment and advanced microangiopathy. Case report: KAO, 60-year-old, presented for evaluation after a 10-year moderate cognitive impairment, with short term memory loss without functional impairment at that point. She also referred multiple episodes of neurological deficits along the years, including vertigo and gait impairment. Neurological examination showed a wide-based gait, dismetria and disdiadococinesia and global hiperreflexia. She scored 15/30 on the Montreal Cognitive Assessment, with noted attentional deficits, memory loss and visuoespacial impairment. Family history was positive for her 62-year-old mother having history of stroke, followed by major cognitive impairment. Brain Magnetic Rrsonance Imaging showed severe white matter impairment with confluent hyperintensities — Fazekas 3, in addition to hipointensity in frontal lobes and in left side of cerebellum, suggesting hemosiderin deposition. Cardiological exams didn’t show any other significant cardiovascular risk factors. The patient was submitted to genetic testing that confirmed an atypical heterozygous pathogenic variant in NOTCH3. Conclusion: CADASIL is caused, in approximately 95% of cases, by point mutations in the NOTCH3 gene (a subtype of transmembrane receptor that acts in signaling between neighboring cells, being located in vascular muscle cells). This gene is located on chromosome 19p13.12 (OMIM #125310). The prevalence is 2:100,000, but varies in different populations. Penetrance is believed to be 100%, but it is age dependent. The severity of symptoms and disease progression are diverse, with great intra and interfamilial phenotypic variability
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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 | 0.002 |
| Meta-epidemiology (narrow) | 0.004 | 0.002 |
| Meta-epidemiology (broad) | 0.002 | 0.002 |
| Bibliometrics | 0.006 | 0.004 |
| Science and technology studies | 0.004 | 0.002 |
| Scholarly communication | 0.003 | 0.002 |
| Open science | 0.002 | 0.002 |
| Research integrity | 0.006 | 0.004 |
| Insufficient payload (model declined to judge) | 0.005 | 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".