表现为多巴反应性肌阵挛-肌张力障碍综合征的常染色体显性鸟苷三磷酸环化水解酶缺乏症
Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome.
作者信息
Leuzzi V, Carducci Ca, Carducci Cl, Cardona F, Artiola C, Antonozzi I
机构信息
Department of Child Neurology and Psychiatry, University of Rome, La Sapienza, Italy.
出版信息
Neurology. 2002 Oct 22;59(8):1241-3. doi: 10.1212/wnl.59.8.1241.
The authors report a kindred in which GTP-CH deficiency resulted in a myoclonus-dystonia syndrome. The proband, a 17-year-old boy, presented with early-onset myoclonus and later, dystonia and bradykinesia. Blood prolactin was increased and CSF homovanillic acid, 5-hydroxyindoleacetic acid, and biopterin were all reduced. L-Dopa/carbidopa administration resulted in clinical improvement. In the paternal branch, the grandfather and three relatives had myoclonus-dystonia and resting or postural tremor of limbs. The authors found a missense mutation in the exon 6 of GCH-1 gene (K224R).
作者报告了一个家系，其中鸟苷三磷酸环化水解酶缺乏导致了肌阵挛性肌张力障碍综合征。先证者是一名17岁男孩，表现为早发性肌阵挛，随后出现肌张力障碍和运动迟缓。血催乳素升高，脑脊液高香草酸、5-羟吲哚乙酸和生物蝶呤均降低。左旋多巴/卡比多巴治疗使临床症状改善。在父系分支中，祖父和三名亲属有肌阵挛性肌张力障碍以及肢体静止性或姿势性震颤。作者在GCH-1基因外显子6中发现了一个错义突变（K224R）。
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