Analysis of GCH1 gene mutation of close relatives marriage caused dopa reactive dystonia ( report of one family) / 临床神经病学杂志

ABSTRACT

Objective To analyze the characteristics of GCH1 gene mutation of close relatives marriage caused dopa reactive dystonia (DRD).Methods The data of 3 patients with DRD from the same family in our hospital and their families were analyzed.Genes related to hereditary dyskinesia in their families were detected and validated. Results In this family, the proband’s parents (Ⅲ3 and Ⅲ4) were close relatives.The proband (Ⅳ2) and her eldest daughter (Ⅴ2) and niece (Ⅴ7) were all DRD patients.All of them were young onset , mainly manifested as Parkinsonina-like symptoms and dystonia , and all responded well to dopamine therapy.Gene detection showed that the GCH1 gene had c.245T＞C (p.Leu82Pro) mutation.The second daughter (Ⅴ3), son (Ⅴ5), granddaughter (Ⅵ3) and brother (Ⅳ3) of the proband were carriers of abnormal genes.Conclusions Close relatives marriage increases the incidence of DRD.DRD may be considered in patients with a positive family history of dystonia.Gene detection is an effective diagnosis method.