[P2–316]: SCHIZOPHRENIA SPECTRUM AND BEHAVIOURAL VARIANT FRONTOTEMPORAL DEMENTIA: THE TWO FACES OF C9ORF72 REPEAT EXPANSION?
Bibliographic record
Abstract
The overlap between psychotic disorders and behavioural variant frontotemporal (bvFTD) has recently been brought into focus, with C9orf72 mutation carriers demonstrating late-onset psychosis as clinical presentation of bvFTD. However, it remains unclear whether the early-onset schizophreniform disorder represents an early manifestation of C9orf72 repeat expansion. Recent data suggests that involvement of cortico-thalamo-cerebellar network in C9orf72 mutation carriers may represent a candidate substrate for altered body scheme processing leading to psychotic symptoms. Case report with genetic and neuroimaging data. This 61-year old woman had a history of paranoid schizophrenia since the age of 36. She was known for antipsychotic hypersensitivity with neuroleptic malignant syndrome. Family history revealed her son also suffered from schizophrenia. At the age of 55, she had an exacerbation of psychotic symptoms and exhibited grandiosity. She progressively became very disorganised and apathetic which impacted considerably her activities of daily living; nursing home placement was necessary. She also started to have new perseverative behaviours such as wiping her saliva for hours. Brain MRI showed mild bifrontal and temporal atrophy. F-fluorodeoxyglucose positron emission tomography showed bifrontal hypometabolism particularly in orbitofrontal and medial frontal regions, predominantly left, and anterior temporal hypometabolism. A diagnosis of bvFTD was made. Genetic analysis revealed C9orf72 repeat expansion with >80 repeats.
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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) | 0.002 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.000 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.003 | 0.001 |
| Insufficient payload (model declined to judge) | 0.007 | 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".