SYNE1-related spastic-ataxia: A nuclear envelopathy beyond French Canadians
Bibliographic record
Abstract
Abstract Spectrin Repeat Containing Nuclear Envelope Protein 1 ( SYNE1 ), one of the largest genes in the human genome, encodes the scaffold protein nesprin-1, a critical component of the linker of nucleoskeleton and cytoskeleton complex. Disorders associated with SYNE1 belong to a recently recognized group of conditions termed “nuclear envelopathies,” which arise from dysfunctions in proteins associated with the nuclear envelope. SYNE1-related ataxia (ATX-SYNE1) was initially described in the French Canadian population but has since been identified in diverse populations worldwide. The condition primarily presents as pure cerebellar ataxia, although it may also include a range of additional neurological or systemic features. To characterize the emerging phenotypic spectrum of ATX-SYNE1 and associated disorders, we conducted a narrative review. In addition, we report three newly identified patients of Indian ancestry with ATX-SYNE1, all exhibiting a spastic ataxia phenotype with variable age of onset, with or without lower motor neuron involvement, further highlighting the clinical heterogeneity of this condition.
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How this classification was reachedexpand
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 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| 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) | 0.000 | 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 itClassification
machine, unvalidatedMachine predicted; a candidate call from one teacher head, 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".