Evidence map›Paper›PMID 41357705›Full record

ReviewIranian journal of public health2025

Clinical and Genetic Variant Profile of Asian Charcot-Marie Tooth Patients: A Systematic Review.

Sanaz Kavoosi, Zahra Karimi, Nastaran Asghari Moghaddam, Fereshteh Ashtari

Abstract readReview
In one paragraph

Review in Iranian journal of public health, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors.

Sanaz KavoosiDepartment of Biology, University of Padova, 35131 Padova, Italy.
Zahra KarimiNeurosciences Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.
Nastaran Asghari MoghaddamDepartment of Biology, CT. C., Islamic Azad University, Tehran, Iran.
Fereshteh AshtariDepartment of Neurology, Isfahan AND Isfahan Neuroscience Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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 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.

Indexed as

AsianCharcot-Marie-tooth diseaseClinicalEpidemiologyGenetics

Identifiers

PMID41357705
PMCPMC12676062

What Socratic holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.