Clinical and Genetic Variant Profile of Asian Charcot‐Marie Tooth Patients: A Systematic Review
Bibliographic record
Abstract
Background: Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral neuropathy by high clinical and genetic heterogeneity. Although many studies reported from East Asian countries, data from West/South Asia remain limited. The current study aimed to summarize available epidemiological, clinical and genetic data of CMT patients in Asia. Methods: We searched PubMed, Scopus, Web of Sciences, Nature, Google Scholar, Science Direct, and Willey for relevant published articles between 2003 until Feb 2023, according to PRISMA guidelines. Articles were screened for epidemiological, clinical and genetic information. Inclusion required published mutation frequency or genetic variant in CMT patients. The Q-Genie tool and Newcastle-Ottawa (NOS) were used to evaluate the quality of genetics and observational studies, respectively. Results: Out of 320, 32 screened articles met the inclusion criteria. Most studies were reported from China (n = 12), Japan (n=7), and Korea (n=6). The axonal CMT was the frequent type (50%), followed by demyelinating (28%) and intermediate (9%) types. Autosomal dominant (AD) inheritance was observed in 62% of genetically confirmed cases. Frequently mutated genes were GDAP1, MPZ, and JGB1, which have been found mostly in the East Asia. Conclusion: This systematic review reports substantial knowledge gap in West/South Asian CMT research. The review emphasized the urgent need to use comprehensively of next-generation sequencing (NGS) to uncover new mutations and improve diagnostics in West/South Asian. Future region-specific cohort studies and registries can be essential to identify frequent variants and fill the diagnostic gaps.
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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 | 0.005 | 0.034 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.006 | 0.001 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.001 | 0.000 |
| Research integrity | 0.000 | 0.001 |
| 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".