Hyperekplexia: genetics and culture-bound stimulus-induced disorders
Bibliographic record
Abstract
Abnormal, excessive startle is a feature of three distinct conditions: hyperekplexia or startle disease, jumping (the jumping Frenchmen of Maine), and startle epilepsy. The mechanisms of normal / startle and startle epilepsy are reviewed by Brown et al. (this volume). Clinical presentation Kirstein and Silverskiold (1958), first described startle disease. Two sisters, their father, and the daughter of one of the sisters suffered from sudden violent falls precipitated by stress, fright, or surprise. Three of these family members also had nocturnal myoclonus. The authors cautiously considered the disorder to represent an unusual, genetically determined form of drop seizures. In a letter to Lancet , Kok and Bruyn (1962), drew attention to a hereditary disease affecting 29 individuals in six generations of a German–Dutch family with 127 members. Suhren et al. (1966), described this family in much greater detail. The affected individuals had a strikingly excessive response to startle elicited by visual, auditory, and proprioceptive stimuli that failed to produce a response in most normal individuals. These authors coined the term hyperekplexia, i.e. excessive jerking to describe the condition. The disorder occurs in two forms: a minor form in which the response is quantitatively different from normal, i.e. the startle response is more violent; and a major form in which there are also additional clinical symptoms. In the major form, patients, when startled, experience momentary generalized muscular stiffness with loss of voluntary postural control causing them to fall as if frozen, with their arms at their sides, unable to carry out protective movements.
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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 | 0.000 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.001 |
| Science and technology studies | 0.000 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.005 | 0.002 |
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".