Cerebellar Ataxia Due to FGF14 GAA Repeat Expansion: First Southeast Asian Case and Novel Neuroimaging Features
Bibliographic record
Abstract
Trinucleotide (GAA) repeat expansion in FGF14 was recently discovered to explain 10-60% of undiagnosed cases of late-onset cerebellar ataxia (LOCA), in some cases displaying autosomal dominant inheritance. 1 To our knowledge, no cases have been reported in Southeast Asia (SEA), a region with diverse populations totalling >600 million people.Here, we report a Malaysian of Chinese ancestry who had LOCA and a large FGF14 repeat expansion of 336 GAA repeats.She had pronounced and selective bi-parietal lobe atrophy on brain imaging, which has not previously been reported.This report thus potentially expands the phenotype of GAA-FGF14-related neurodegeneration and its geographic distribution. Case ReportAn 82-year-old Chinese woman with no family history of neurological disorders presented to us in August 2020, aged 78 years, with the chief complaint of unsteady gait of several months duration.Other symptoms were clumsiness of the hands, intermittent slurring of speech, and "shakes" in the legs.She had been on betahistine for several years for vertigo.There were no REM sleep behaviour symptoms, urinary incontinence, or foot numbness.Her other medical issues were hypertension, hyperlipidaemia, and knee osteoarthritis.There was no history of significant alcohol intake.Examination revealed a moderately wide-based and shuffling, unsteady gait, with inability to perform tandem walk.Eye movements were normal, with no nystagmus.Speech was not dysarthric.There was a mild action tremor of the upper limbs.A mild resting tremor was observed in the legs intermittently, with slight cogwheel rigidity at the wrists and mild bradykinesia of upper limb movements.Halmagyi head thrust test was negative.
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
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 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.002 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.002 | 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".