A new splice-site mutation in <i>SLC12A6</i> causing Andermann syndrome with motor neuronopathy
Bibliographic record
Abstract
Solute carrier family 12 member 6 ( SLC12A6 ) mutations have been found to be responsible for the phenotype that causes agenesis of the corpus callosum (CC) with peripheral neuropathy, a condition which is also known as Andermann syndrome (AS). AS is an autosomal-recessive disease with syndromic features that has rarely been reported anywhere in the world other than Quebec, Canada.1 Hereditary neuropathies (HN) and complicated hereditary spastic paraparesis (HSP) call for differential diagnosis, since AS has both neurodevelopmental and neurodegenerative aspects affecting both sensory and motor fibres.1 2 This study presents an AS family who has motor neuropathy without sensory involvement due to a new SLC12A6 mutation. Patient 1 is a 17-year-old man of a first degree cousin marriage. He had hypotonia at birth. At the age of 2 years, he could walk independently, but after 3, he had difficulty in walking, which worsened in years to follow. He suffered from mild mental retardation, had phenotypic long face, hypoplastic maxilla, minimal bilateral ptosis (figure 1) and high-arched palate. Long tapered fingers were remarkable (figure 1). He had thoracic scoliosis and flexion contracture in both ankles. Symmetrical reduced muscle strength and atrophy existed in the proximal and distal muscles, which were more prominent in the lower extremities. Plantar reflex was noted to be extensor, and deep tendon reflexes could be detected. Electromyography (EMG) examination showed that sensory transmissions were normal, but …
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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) | 0.002 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.001 | 0.000 |
| Research integrity | 0.002 | 0.001 |
| 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".