Editorial on: <scp>Confirmation</scp> of <scp><i>RAB32</i> Ser71Arg</scp> involvement in <scp>Parkinson's</scp> disease
Bibliographic record
Abstract
The etiology of Parkinson's disease (PD) is complex, involving an interplay of genetic and environmental factors.While some patients inherit rare pathogenic variants that cause Mendelian forms of the disease, many others develop PD due to polygenic risk from a combination of common risk variants.1 To date, 22-40% of the genetic heritability of PD has been accounted for. 2 However, for late-onset PD, the more prevalent form, only three well-validated genes (SNCA, LRRK2, and VPS35) are known to cause the autosomal-dominant PD, along with several other genes reported in isolated cases or families.3 Recently, RAB32 c.213C>G (Ser71Arg; dbSNP rs200251693) was described as a novel cause of autosomal-dominant late-onset PD by two groups independently.4,5 The first study reported that the RAB32 Ser71Arg variant co-segregated with PD in three Tunisian families and was identified in 13 unrelated patients with PD, two-thirds of whom had a known family history of the disease.4 These patients originated from various countries, including Canada, Italy, Poland, Turkey, Tunisia, Germany, the United Kingdom (UK), and the United States (US). 4 The second study reported the RAB32 Ser71Arg variant in 18 unrelated patients with PD, all of whom were from the US, and co-segregation with disease was established in three of these families.5 In the current issue of Movement Disorders, three independent groups assessed RAB32 variants in their diverse cohorts of patients with PD and in controls.[6][7][8] Cogan et al. analyzed 1292 patients with PD and describe a French patient heterozygous for RAB32 ----------------------------------
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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 | 0.002 | 0.010 |
| Meta-epidemiology (narrow) | 0.003 | 0.001 |
| Meta-epidemiology (broad) | 0.002 | 0.002 |
| Bibliometrics | 0.002 | 0.001 |
| Science and technology studies | 0.002 | 0.002 |
| Scholarly communication | 0.004 | 0.003 |
| Open science | 0.004 | 0.001 |
| Research integrity | 0.013 | 0.013 |
| Insufficient payload (model declined to judge) | 0.047 | 0.032 |
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".