Episodic Ataxia Type 1: Natural History, Quality of Life and Patient-Reported Symptoms. (S32.004)
Bibliographic record
Abstract
OBJECTIVE: To obtain quantitative data on the progression of episodic ataxia type 1 (EA1) over two years, to characterize the course of the condition and provide a baseline for future clinical trials. BACKGROUND: EA1 is a rare disorder clinically characterized by brief attacks of unsteadiness, dizziness and myokymia without nystagmus and is genetically defined by heterozygous mutations in the potassium channel encoding gene, KCNA1. As no prospective studies have been performed, the impact of the disease on patients over time is therefore unknown. DESIGN/METHODS: We designed a multi-center, prospective, longitudinal natural history study. Participants were recruited from sites in the USA, Canada and the UK between September 2006 and March 2010. They were followed at yearly intervals for three visits. Outcome measures included a standardized symptom interview, a SARA score (a standardized measure of cerebellar dysfunction on examination), the Short Form-36 (SF36) quality of life measure and standardized assessment of Activities of Daily Living. Subjects also used an automated interactive telephone-based voice response diary to record symptoms observed, as well as the frequency and severity of attacks for 8 weeks following their annual visits. RESULTS: 33 patients were enrolled. One year follow up data is available for 24 participants and two year follow up for 19 participants. The findings for the SARA, activities of daily living scale, SF-36 and IVR are presented. The utility of these measures to document change will also be discussed. On all measures, very little progression was noted in individuals over a two year period, suggesting that any future drug trial would show benefit during this timescale, if the drug were efficacious. CONCLUSIONS: This large prospective study of EA1 provides the first documentation of the natural history of this disorder and will provide guidance for the design of future clinical trials. Supported by: DHHS/PHS/NIH grant 2U54NS059065-07.
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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 | 0.001 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.007 | 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".