Serum prolactin in symptomatic and asymptomatic dopa-responsive dystonia due to a <i>GCH1</i> mutation
Bibliographic record
Abstract
Autosomal dominant dopa-responsive dystonia (DRD) is mainly caused by mutations in GCH1 , which encodes GTP cyclohydrolase I (GTPCH), the enzyme in the biosynthesis of tetrahydrobiopterin (BH4; the cofactor for tyrosine hydroxylase [TH]).1 However, because of incomplete penetrance of GCH1 mutations in GTPCH-deficient DRD, it cannot be predicted whether an individual with a GCH1 mutation will develop DRD symptoms. Because dopamine is a prolactin-inhibiting factor and hyperprolactinemia was reported in patients with autosomal recessive BH4 deficiency,2-4⇓⇓ we compared serum prolactin levels between untreated patients with a heterozygous GCH1 mutation and asymptomatic carriers of the mutation in a three-generation DRD family to evaluate whether the prolactin level relates to the symptomatic state of DRD. We also determined prolactin concentration in a dopa-naive compound heterozygote for GCH1 mutations in the DRD family who developed relatively severe symptoms (dystonia with motor delay). The study was approved by the review board of the Centre for Addiction and Mental Health. After obtaining written informed consent, we conducted direct sequencing of GCH1 using genomic DNA from peripheral leukocytes,5 and measured serum prolactin levels by standard enzyme-immunoassay. Blood samples were …
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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 | 0.002 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.001 | 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".