The New Zealand Genetic Frontotemporal Dementia Study (FTDGeNZ): a longitudinal study of pre‐symptomatic biomarkers
Bibliographic record
Abstract
The New Zealand Genetic Frontotemporal Dementia Study (FTDGeNZ) is an emerging longitudinal study of a large New Zealand pedigree with genetic frontotemporal dementia (FTD). Natural history studies of genetic FTD cohorts provide a unique opportunity to identify biomarkers of pre-symptomatic dementia, as carriers can be identified and studied decades before expected symptom onset. FTDGeNZ was established in 2016 with the aim of identifying the earliest pre-symptomatic biomarkers of FTD, in collaboration with international multi-centre cohorts. We enrolled 25 participants from a single family between April 2016 and August 2018. Participants were genotyped to determine whether they were pre-symptomatic carriers of the mutation (MAPT IVS 10 + 16 C > T), or non-carrier controls. Participants have undergone clinical assessments including neuropsychological and mood assessment; olfactory testing; assessment of social cognition; and blood collection for analyses of microRNA and protein fluid biomarkers annually. We have also performed structural and functional MRI of the brain and assessment of autobiographical memory biennially, and retinal imaging at baseline. Here, we describe the full study protocol and the baseline demographic and clinical characteristics of the FTDGeNZ cohort, and we highlight the latest findings in the field.
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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 | 0.001 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.000 | 0.001 |
| 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".