O2‐14‐06: DIFFERENCES BETWEEN SPORADIC AND FAMILIAL BEHAVIORAL VARIANT FTD IN ADVANCING RESEARCH AND TREATMENT FOR FTLD (ARTFL) CLINICAL RESEARCH CONSORTIUM
Bibliographic record
Abstract
We aimed to compare the clinical and demographic features of sporadic and genetic forms of behavioral variant frontotemporal dementia (bvFTD) evaluated in the ARTFL/LEFFTDS projects. ARTFL is an 18 center clinical research consortium preparing for FTLD clinical trials that operates in conjunction with the Longitudinal Evaluation of Familial Frontotemporal Dementia Subjects (LEFFTDS) project. Many new FTLD trials will focus on autosomal dominant familial FTLD (fFTLD) because it is possible to definitively determine individuals’ underlying pathology during life and because prevention trials may be possible in asymptomatic gene carriers. A major question is whether findings in fFTLD will translate to the more common sporadic FTLD syndromes, of which bvFTD is the most common syndrome. Clinical and neuropsychological ratings from the National Alzheimer's Coordinating Center Uniform Data Set (UDS) and FTLD modules were evaluated in patients meeting 2011 FTDC criteria for bvFTD evaluated in the ARTFL/LEFFTDS consortium between 2015-2017. Through December, 2017, 213 bvFTD were enrolled in ARTFL, including 136 sporadic cases (36.8% female; mean: 63.6±8.8 years) and 77 familial cases (47.9% female; 58.5±9.7 years). Familial bvFTD included 33 C9orf72, 20 MAPT, 4 GRN mutation carriers (confirmed or presumed) and 20 bvFTD with strong FTLD family history but no identifiable mutation. Sporadic and familial bvFTD did not differ in measures of disease severity such as CDR-FTLD-SB (8-item), MoCA, and CGI-S. Sporadic bvFTD were older (p<0.001) and had higher total NPI-Q scores (11.9±6.0 vs. 10.1±5.9, p =0.05). In patients with worse disease severity (CDR-FTLD-SB ≥ median, which was 8.0), MAPT mutation carriers had worse parkinsonism (UPDRS and PSPRS scores) compared with sporadic and other familial bvFTD patients. No differences in presence of hallucinations or delusions on NPI-Q were noted between C9orf72 bvFTD and other cohorts. Sporadic bvFTD cases are older and tend to have more severe neuropsychiatric symptoms than familial bvFTD, but are otherwise highly similar on the NACC UDS and FTLD module assessments. This supports the hypothesis that a clinically meaningful treatment response in familial bvFTD may be generalizable to sporadic bvFTD.
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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 | 0.009 | 0.011 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.002 | 0.001 |
| Open science | 0.001 | 0.001 |
| 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".