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 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) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.002 | 0.002 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.000 |
| Insufficient payload (model declined to judge) | 0.002 | 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".