Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome
Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome
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DOI：
10.1212/wnl.59.8.1241
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发表时间：
2002-10-22
期刊：
影响因子：
9.9
通讯作者：
Antonozzi, I
中科院分区：
文献类型：
--
作者：
Leuzzi, V;Carducci, C;Antonozzi, I
作者报告了一个家族中GTP-CH缺乏导致肌阵挛-肌张力障碍综合征。先证者是一名17岁的男孩，表现为早发性肌阵挛，后来出现肌张力障碍和运动迟缓。血催乳素升高，脑脊液同质香草酸、5-羟基吲哚乙酸、生物蝶呤均降低。左旋多巴/卡比多巴使临床改善。父系分支中，祖父和3名亲属有肌阵挛性肌张力障碍和四肢静止或体位性震颤。作者在GCH-1基因（K224R）的外显子6上发现了一个错义突变。
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).