杂合子酪氨酸羟化酶突变携带者中的轻度多巴反应性肌张力障碍：症状性酶缺乏的证据？
Mild dopa-responsive dystonia in heterozygous tyrosine hydroxylase mutation carrier: Evidence of symptomatic enzyme deficiency?
机构信息
Department of Neurology, University of Geneva and University Hospitals of Geneva, Geneva, Switzerland; Edmond J. Safra Program in Parkinson's Disease and Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital, Toronto, Canada.
Edmond J. Safra Program in Parkinson's Disease and Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital, Toronto, Canada; Centre for Clinical Brain Sciences, University of Edinburgh, Edinburgh, UK; Anne Rowling Regenerative Neurology Clinic, University of Edinburgh, Edinburgh, UK; Usher Institute of Population Health Sciences and Informatics, University of Edinburgh, Edinburgh, UK.
出版信息
Parkinsonism Relat Disord. 2020 Feb;71:44-45. doi: 10.1016/j.parkreldis.2020.01.017. Epub 2020 Jan 30.
We present a case of mild, adult-onset dopa-responsive dystonia (DRD) with a heterozygous mutation in the tyrosine hydroxylase (TH) gene. We propose that this genetic state may have led to partial enzyme deficiency. Future studies should attempt to identify and characterize the phenotype of other patients with single TH variants.
我们报告了一例轻度、成人起病的多巴反应性肌张力障碍（DRD），患者携带酪氨酸羟化酶（TH）基因的杂合突变。我们提出，这种遗传状态可能导致了部分酶的缺乏。未来的研究应尝试鉴定和描述其他携带单个 TH 变异的患者的表型。
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