Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopthy (CADASIL) in Argentina (P2.123)
Bibliographic record
Abstract
Objetive To report clinical and demographic data from a group of patients with CADASIL in Buenos Aires, Argentina. Background Cerebral Autosomal Dominant Arteriopathy with Subcortical infarcts and Leucoencephalopathy (CADASIL) is an important cause of stroke and cognitive impairment in young people. Clinical suspicion is based in typical symptoms, family history, and findings in brain magnetic resonance imaging (MRI). A genetic test investigating NOTCH3 mutation and/or skin biopsy assessing for granular osmophilic material (GOM) presence are needed for diagnosis. No specific treatment is available. Design/Methods Retrospective assessment of patients with diagnosis of CADASIL by genetic studies and/or skin biopsy at our institution. Family history was obtained when available. Results There were 12 patients (7 males) in 8 families, aged 50 ± 10 years. Diagnosis was made by skin biopsy in ten and by genetic test in two. All patients were of European ancestry. Three patients had no familiar history of CADASIL. Initial clinical presentation were stroke (n=10), migraine with aura (n=1), and cognitive impairment (n=1). Ten stroke patients later developed cognitive impairment (n=9), migraine with aura (n=1), apathy (n=4), and depression (n=6). All patients were studied with MRI. Typical lesions were found in external capsule (n=10) and temporal lobes (n=9). Two had microbleeds. Associated vascular risk factors were hypertension (n=7), dyslipemia (n=9), smoking (n=4), and type 2 diabetes mellitus (n=2). All patients received antiplatlet treatment and 2 of them were later anticoagulated. Six asymptomatic relatives had normal MRI and 2 of them had negative skin biopsies. Time of follow up was between 30 and 4383 days. Two patients died, mRS was <3 in 8 subjets and 蠅3 in 2. Conclusions To the best of our knowledge, this is the first cases series of patients with CADASIL in Argentina. Our findings are similar to those reported in the literature for other regions. Study Supported by:
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
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".