Assessment of FTLD genes and C9orf72 repeat length in atypical Parkinsonism
Bibliographic record
Abstract
There is clinical, genetic and pathological overlap between atypical parkinsonism (APS) and frontotem- poral lobar degeneration (FTLD). Some patients diagnosed with APS carry pathogenic mutations in FTLD genes, including C9orf72. Unaffected individuals usually have less than 8 hexanucleotide repeats (HR) in C9orf72 and >60 HRs is defined as pathogenic for FTD/ALS. Intermediate expansions are reported to be a risk factor for corticobasal degeneration (CBD). We are evaluating variation in FTLD genes in a large multicentre UK APS study (PROSPECT) and Brain Bank (BB) patients with APS, and controls. We have recruited 508 PROSPECT and 392 BB participants. We are screening these samples using repeat-primed PCR for C9orf72 repeat expansions and analysing whole genome sequence data. To date, we have identified four cases with pathogenic mutations in FTLD genes (MAPT, TBK1 and GRN) and one atypical corticobasal syndrome case with an intermediate expansion in C9orf72. Mutation carriers have similar phenotypes to sporadic APS, but usually with a younger age at onset and a positive family history. Analysis of FTLD genes is important in APS, especially in younger patients with a family history.
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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 | 0.001 | 0.002 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.002 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.000 |
| Insufficient payload (model declined to judge) | 0.002 | 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 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".