Acute onset dystonic camptocormia caused by lenticular lesions
Bibliographic record
Abstract
Clinical and Genetic Studies on Familial Parkinsonism: The First Report on a Parkin Gene Mutation in a Taiwanese FamilyEarly-onset parkinsonism with an onset before age 40 is quite hetereogenous in clinical, genetic, and pathologic aspects.Autosomal recessive juvenile parkinsonism (ARJP) is recognized as a distinct clinical entity characterized by early onset, sleep benefit, remarkable response to levodopa, and dopainduced dyskinesia.1,2 The majority of the affected individuals reported in Japan are offspring of consanguineous marriages.Pathologic findings from several reports are also distinct in selective degeneration of nigral dopaminergic neurons without Lewy bodies.3 Recently, the gene locus for ARJP was mapped to chromosome 6q25.2-q27,4,5 and subsequently, a large gene termed parkin consisting of 12 exons was firstly identified in Japanese families.6 There were several kinds of homozygous intragenic deletional mutations in the parkin gene found in Japanese families of ARJP.7 Reports of exonic deletions were also described in other ethnic groups.[8][9][10] Other than exonic deletions, point mutations in exons 6 and 8 were further detected in Turkish families.11 It is also interesting that a wide variety of point mutations rather than deletions have been reported to be more frequently responsible for this disease in Europe.12 The high incidence of familial occurrence of earlyonset parkinsonism was also found among Chinese in Taiwan, in that 16% of the patients reported by Tsai et al. 13 had the age of onset below 40, and 37.5% below 20.Here we report a deletional mutation of exon 3 in parkin gene in two affected sibs of early onset parkinsonism from one autosomal recessive Taiwanese family.
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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 | 0.001 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.003 | 0.001 |
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".