Research focus and theme trend on Charcot–Marie–Tooth disease since 2000: a bibliometric analysis

• DOI: 10.1186/s41983-025-00939-8
• Publication Date: 2025-02-17T12:08:36Z
• Authors: Shimiao Dai; Junying Zhu; Aolin Yang; Yao Li; Miaomiao Ma; Qingqing Lv; Yuqing Chen; Litao Sun; Ji-Chang Zhou
• Keywords: Theme trend; Bibliometrics; Genetic analysis; Neurosciences. Biological psychiatry. Neuropsychiatry; Charcot–Marie–Tooth disease; RC321-571

Abstract

Background Charcot–Marie–Tooth disease (CMT) represents a hereditary neuromuscular disorder characterized by an incomplete pathological understanding and a lack of effective therapeutic interventions. This study aimed to investigate the advancement of CMT research, anticipate its developmental trajectory, and offer insights for development endeavors.

Results Bibliometric data of articles published from January 2000 to December 2023 were downloaded from five databases: Scopus, Embase, Web of Science, and PubMed. The study retrieved 5,053 articles. The United States has emerged as the most productive country and maintained the most robust cooperation with other countries on CMT research. Following a clustering analysis, 124 high-frequency keywords were categorized into three clusters, further subdivided into seven specific themes: cell and animal model studies, associated protein, neurological studies, epidemiological distribution, disease diagnosis, clinical feature, and genetic analysis. The strategic diagram highlights genetic analysis emerges as a prospective focus.

Conclusions CMT genetic analysis, which encompasses novel gene identification, therapy oriented toward molecular genetics, and the synergistic influence of multiple genes, are expected to be the prospective hotspots and potential trends in the CMT research field.