Igor Melo de Almeida, Vinícius Lopes Braga, Igor Braga Farias, Roberta Ismael Lacerda Machado, Paulo de Lima Serrano, Bruno de Mattos Lombardi Badia, Ana Carolina dos Santos Jorge, Wladimir Bocca Vieira de Rezende Pinto, Paulo Victor Sgobbi de Souza, Acary Souza Bulle Oliveira
{"title":"adcy5相关运动障碍:一种可治疗的遗传性神经代谢障碍","authors":"Igor Melo de Almeida, Vinícius Lopes Braga, Igor Braga Farias, Roberta Ismael Lacerda Machado, Paulo de Lima Serrano, Bruno de Mattos Lombardi Badia, Ana Carolina dos Santos Jorge, Wladimir Bocca Vieira de Rezende Pinto, Paulo Victor Sgobbi de Souza, Acary Souza Bulle Oliveira","doi":"10.34024/rnc.2023.v31.14786","DOIUrl":null,"url":null,"abstract":"Case Report. A 40-year-old Brazilian man presented with long-standing loss of balance, dystonia, and choreoathetosis, with episodic paroxysmal worsening. Neuroimaging and cerebrospinal fluid analysis were both unremarkable. Quantitative urine organic acid analysis, plasma acylcarnitine quantitative profile, and quantitative analysis of plasma amino acids by high performance liquid chromatography were all within normal interval values. Multigene next-generation sequencing panel identified the heterozygous pathogenic variant c.1252C>T (p.Arg418Trp) in the ADCY5 gene, defining a diagnosis of ADCY5-related dyskinesia. Oral caffeine was associated to clonazepam and provided marked improvement of motor symptoms. Conclusion. This report adds evidence to the safety and efficacy of caffeine in the treatment of genetically confirmed cases of ADCY5-related dyskinesia in the context of gain-of-function variants.","PeriodicalId":21357,"journal":{"name":"Revista Neurociências","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2023-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"ADCY5-related dyskinesia: a treatable inherited neurometabolic disorder\",\"authors\":\"Igor Melo de Almeida, Vinícius Lopes Braga, Igor Braga Farias, Roberta Ismael Lacerda Machado, Paulo de Lima Serrano, Bruno de Mattos Lombardi Badia, Ana Carolina dos Santos Jorge, Wladimir Bocca Vieira de Rezende Pinto, Paulo Victor Sgobbi de Souza, Acary Souza Bulle Oliveira\",\"doi\":\"10.34024/rnc.2023.v31.14786\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Case Report. A 40-year-old Brazilian man presented with long-standing loss of balance, dystonia, and choreoathetosis, with episodic paroxysmal worsening. Neuroimaging and cerebrospinal fluid analysis were both unremarkable. Quantitative urine organic acid analysis, plasma acylcarnitine quantitative profile, and quantitative analysis of plasma amino acids by high performance liquid chromatography were all within normal interval values. Multigene next-generation sequencing panel identified the heterozygous pathogenic variant c.1252C>T (p.Arg418Trp) in the ADCY5 gene, defining a diagnosis of ADCY5-related dyskinesia. Oral caffeine was associated to clonazepam and provided marked improvement of motor symptoms. Conclusion. This report adds evidence to the safety and efficacy of caffeine in the treatment of genetically confirmed cases of ADCY5-related dyskinesia in the context of gain-of-function variants.\",\"PeriodicalId\":21357,\"journal\":{\"name\":\"Revista Neurociências\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-08-16\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Revista Neurociências\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.34024/rnc.2023.v31.14786\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Revista Neurociências","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.34024/rnc.2023.v31.14786","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
ADCY5-related dyskinesia: a treatable inherited neurometabolic disorder
Case Report. A 40-year-old Brazilian man presented with long-standing loss of balance, dystonia, and choreoathetosis, with episodic paroxysmal worsening. Neuroimaging and cerebrospinal fluid analysis were both unremarkable. Quantitative urine organic acid analysis, plasma acylcarnitine quantitative profile, and quantitative analysis of plasma amino acids by high performance liquid chromatography were all within normal interval values. Multigene next-generation sequencing panel identified the heterozygous pathogenic variant c.1252C>T (p.Arg418Trp) in the ADCY5 gene, defining a diagnosis of ADCY5-related dyskinesia. Oral caffeine was associated to clonazepam and provided marked improvement of motor symptoms. Conclusion. This report adds evidence to the safety and efficacy of caffeine in the treatment of genetically confirmed cases of ADCY5-related dyskinesia in the context of gain-of-function variants.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
