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Levodopa is often an effective treatment. Due to its rarity, high heterogeneity, and poorly understood pathological mutation and phenotype spectrums, as well as genotype\u2013phenotype and genotype\u2010treatment outcome correlations, Segawa syndrome poses diagnostic and therapeutic challenges. In our study, through clinical and molecular analyses of three Chinese Segawa patients, we re\u2010evaluated the pathogenicity of a <jats:italic>TH<\/jats:italic> mutation (c.880G&gt;C;p.G294R) previously categorized as \u201cConflicting classifications of pathogenicity\u201d in ClinVar. Also, we summarized the clinical phenotypes of all reported Segawa syndrome cases until 2023 and compared them with our patients. We identified a novel phenotype, \u201ccafe\u2010au\u2010lait macules,\u201d not previously observed in Segawa patients. Additionally, we discussed the correlation between specific genotypes and phenotypes, as well as genotypes and treatment outcomes of our three cases. Our findings aim to enhance the understanding of Segawa syndrome, contributing to improved diagnosis and treatment approaches in the future.<\/jats:p>","DOI":"10.1002\/jdn.10328","type":"journal-article","created":{"date-parts":[[2024,4,3]],"date-time":"2024-04-03T03:58:53Z","timestamp":1712116733000},"page":"305-313","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Compound heterozygous mutations in three Chinese patients of Segawa syndrome and their treatment outcomes"],"prefix":"10.1002","volume":"84","author":[{"given":"Jie","family":"Zhang","sequence":"first","affiliation":[{"name":"State Key Laboratory of Primate Biomedical Research Kunming University of Science and Technology  Kunming China"},{"name":"Institute of Primate Translational Medicine Kunming University of Science and Technology  Kunming China"},{"name":"Yunnan Key Laboratory of Primate Biomedical Research  Kunming China"},{"name":"Department of 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