Frequency of GAA- <i>FGF14</i> Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia
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Bibliographic record
Abstract
<h3>Objectives</h3> Intronic <i>FGF14</i> GAA repeat expansions have recently been found to be a common cause of hereditary ataxia (GAA-<i>FGF14</i> ataxia; SCA27B). The global epidemiology and regional prevalence of this newly reported disorder remain to be established. In this study, we investigated the frequency of GAA-<i>FGF14</i> ataxia in a large cohort of Brazilian patients with unsolved adult-onset ataxia. <h3>Methods</h3> We recruited 93 index patients with genetically unsolved adult-onset ataxia despite extensive genetic investigation and genotyped the <i>FGF14</i> repeat locus. Patients were recruited across 4 different regions of Brazil. <h3>Results</h3> Of the 93 index patients, 8 (9%) carried an <i>FGF14</i> (GAA)<sub>≥250</sub> expansion. The expansion was also identified in 1 affected relative. Seven patients were of European descent, 1 was of African descent, and 1was of admixed American ancestry. One patient carrying a (GAA)<sub>376</sub> expansion developed ataxia at age 28 years, confirming that GAA-<i>FGF14</i> ataxia can occur before the age of 30 years. One patient displayed episodic symptoms, while none had downbeat nystagmus. Cerebellar atrophy was observed on brain MRI in 7 of 8 patients (87%). <h3>Discussion</h3> Our results suggest that GAA-<i>FGF14</i> ataxia is a common cause of adult-onset ataxia in the Brazilian population, although larger studies are needed to fully define its epidemiology.
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Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.000 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.001 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 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 it