Bibliographic record
Abstract
Background: Charcot-Marie-Tooth (CMT) neuropathy is an increasingly polygenic disorder which limits clinical diagnoses due to phenotypic overlap resulting from the common final pathway of length-dependent axonal degeneration. The proband exhibited features of an axonal neuropathy manifesting upper and lower extremity distal amyotrophy, mild sensory loss, absent upper motor neuron findings, and mild hyperCKemia. Methods: Whole-exome sequencing (WES) was performed after failure to identify the familial variant with sequencing of multiple discrete CMT2 genes. Results: A novel VCP mutation (c.511A>C;p.Ser171Arg) was identified. This mutation segregated with an affected brother and father. All manifested a CMT2 phenotype with motor predominance. Further investigation of the proband revealed 1) a muscle biopsy with no inclusions or myopathic changes, 2) a skeletal survey negative for lucencies and hyerostoses, and 3) normal cognitive function. Conclusions: Mutations in valosin-containing protein (VCP) are associated with distinct neurologic phenotypes including 1) inclusion body myopathy, Paget disease, and frontotemporal dementia, 2) hereditary spastic paraplegia, and 3) amyotrophic lateral sclerosis. Recently, CMT2 has been described as a VCP-associated phenotype. This is the second report of a peripheral neuropathic phenotype resulting from a mutation in the VCP gene. The clinical presentation in this family suggests a unique clinical-biochemical phenotype consisting of motor-predominant CMT2 with mild hyperCKemia.
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 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 | 0.005 | 0.022 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.001 | 0.003 |
| Science and technology studies | 0.003 | 0.010 |
| Scholarly communication | 0.001 | 0.002 |
| Open science | 0.003 | 0.000 |
| Research integrity | 0.000 | 0.002 |
| 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; both teacher heads agree on what is shown here.
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".