Emerging Therapeutic Approaches in the Treatment of Neurological Symptoms of Friedreich’s Ataxia: A 40-Year Global Perspective

Abstract

Objectives: To investigate the evolution, focus, and collaboration of research on novel therapeutic approaches for FA over the past 40 years by identifying influential authors and journals, mapping research trends, and analyzing geographical distribution and international cooperation. Background: Friedreich’s ataxia (FA) is an autosomal recessive neurodegenerative disease caused by GAA trinucleotide expansions that silence the frataxin gene, leading to mitochondrial defects, such as impaired respiration and iron-sulfur assembly. Current treatments, including iron chelators, erythropoietin, vitamin E, coenzyme Q10, and omaveloxolone, primarily address symptoms of frataxin deficiency. Due to FA’s rarity, it is crucial to increase awareness of treatment options, enhance research collaboration, and identify specific gaps in the literature to guide future studies. Methods: Using Web of Science (WoS), we inputted the keywords “FXN,” “Treatment,” and “frataxin,” refined by document type “Article,” yielding 389 results. After excluding 15 articles lacking substantial content on FA, we exported and analyzed the bibliometric metadata of the remaining top 100 cited articles. Results: From 1982 to 2021, leading journals focused on neurology and molecular genetics. Italy, the USA, Germany, the UK, and France were leading nations in research collaborations. The most frequently mentioned keywords-plus were “frataxin,” “expression,” and “deficiency.” 55% of keywords were missing from the metadata, compared to only 5% of keywords-plus. Conclusions: Frataxin deficiency and its downstream effects have driven FA research for 40 years, often emphasizing genetic and molecular approaches. Research perspectives are predominantly Western, suggesting a need for different viewpoints. Incorporating new techniques and addressing disparities could improve FA prognosis.