Methods and compositions relating to diagnosing and treating a VMAT-2 deficiency disease are described. Provided are methods for screening for, diagnosing or detecting a risk of developing a VMAT-2 deficiency disease comprising detecting the presence of a VMAT-2 variant in a sample of a subject, wherein the presence of the VMAT-2 variant is indicative that the subject has a VMAT-2 deficiency disease or an increased risk of developing a VMAT-2 deficiency disease compared to an individual having wild type VMAT-2. Also provided are methods of treating a VMAT-2 deficiency disease with a dopamine agonist.
本文描述了与诊断和治疗VMAT-2缺陷疾病相关的方法和组合物。提供了筛选、诊断或检测VMAT-2缺陷疾病发展风险的方法,包括检测受试者样本中VMAT-2变异体的存在,其中VMAT-2变异体的存在表明受试者患有VMAT-2缺陷疾病或比具有野生型VMAT-2的个体更容易发展VMAT-2缺陷疾病。还提供了使用
多巴胺激动剂治疗VMAT-2缺陷疾病的方法。