Electrophysiological Characterization of Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) (P6.255)
Bibliographic record
Abstract
Objective: To provide an electrophysiologic (nerve conduction studies, NCS) characterization of a large cohort of patients with genetically confirmed Hereditary Neuropathies with liability to Pressure Palsy (HNPP). Background: HNPP is an inherited neuromuscular disorder associated with mutations on chromosome 17p11.2 at the peripheral-myelin-protein-22 (PMP22) gene. A quintessential diagnostic tool is electrophysiological testing. Some characteristic NCS features have been reported, but a clear electrophysiological phenotype has yet to be determined. Methods: All patients from 1977-2015 with genetically-confirmed HNPP seen at the Neuromuscular clinic in London Health Sciences Centre (London, Ontario, Canada) were retrospectively reviewed. Clinical parameters obtained include: sex; age at NCS; age at symptom onset; family history, location of symptoms; areflexia; atrophy on examination; and Medical Research Council strength score. Standard nerve conduction studies were performed focusing on the presence of focal compressive neuropathies and length dependent polyneuropathy. Statistical analysis was performed by SPSS version 23 software. Results: 55 patients in total had genetically-confirmed HNPP, of which 47 patients had a sufficient set of NCS for analysis. Female to male ratio was 1:1.2 with an average age of 42.6 (95[percnt] CI 38.0-47.1) years. Median disease duration was 5.5 years. Screen for generalized neuropathy, 34[percnt] had reduced and 19.5[percnt] absent sural sensory responses. Sural conduction velocity was normal in only 10[percnt]. With respect to compressive neuropathies, 13.2 [percnt] had focal compression of the peroneal nerve at the fibular head, 13.5[percnt] ulnar neuropathy at the elbow, and 88.1[percnt] distal median neuropathy at the wrist (carpal tunnel). 85.7[percnt] had abnormal terminal latency for median motor study to thenar eminence, with a mean latency of 5.95 ms (95[percnt] CI 3.9-13.35). Conclusions: A high proportion of our cohort had polyneuropathy. Median terminal motor latency prolongation comprised the vast majority of focal neuropathies with compression at other sites occurring in a minority.
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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 | 0.002 |
| 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 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.001 | 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".