P.007 Familial idiopathic normal pressure hydrocephalus in a Canadian family
Bibliographic record
Abstract
Background: Idiopathic Normal-pressure hydrocephalus (iNPH) is characterized by cognitive impairment, gait disturbance, enlarged ventricles with/without cerebral atrophy, with/without urinary incontinence, and normal cerebrospinal fluid pressure. Familial iNPH is very rarely described in the literature. A Canadian family with more than one generation of iNPH has never been described. Methods: Patient 1: 50-year-old female presented with wide-based and magnetic gait, multiple falls with subsequent freezing. LP with large volume tap was performed. Patient had ventriculo peritoneal (VP) shunt surgery. Patient 2: 52 year male (brother): Presented with long-standing cognitive impairment and fatigue. Montreal Cognitive Assessment (MOCA) was performed. Whole exome sequencing(WES) of both siblings as well as an unaffected first cousin was done. The father and grandmother of both patients was diagnosed with iNPH. Results: Patient 1: Opening pressure on LP was 22 cm-H2O. She responded well to large volume tap. She had VP shunt resulting in improved gait. Patient 2: Opening pressure on LP was 16cm-H2O. CSF flow study was slow for age indicative of NPH. MoCA score was 25/30. WES of patients and unaffected first cousin is underway. Conclusions: We present an undescribed Canadian family with iNPH in more than one generation. WES is underway for better understanding of genetic predesposition and inheritance of familial iNPH
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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) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.002 |
| Science and technology studies | 0.006 | 0.001 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.016 | 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".