ADCY5-related dyskinesia: a treatable inherited neurometabolic disorder

Revista Neurociências Pub Date : 2023-08-16 DOI:10.34024/rnc.2023.v31.14786

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

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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.

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adcy5相关运动障碍:一种可治疗的遗传性神经代谢障碍

病例报告。一位40岁的巴西男性表现为长期失去平衡、肌张力障碍和舞蹈症，并伴有发作性发作性恶化。神经影像学和脑脊液分析均无明显差异。尿液有机酸定量分析、血浆酰基肉碱定量分析、血浆氨基酸高效液相色谱定量分析均在正常区间内。新一代多基因测序小组鉴定出ADCY5基因中的杂合致病变异c.1252C>T (p.a g418trp)，确定了ADCY5相关运动障碍的诊断。口服咖啡因与氯硝西泮相关，并能显著改善运动症状。结论。该报告进一步证实了咖啡因治疗adcy5相关运动障碍的安全性和有效性。

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Revista Neurociências

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