dopa-responsive dystonia Acronyms an autosomal dominant dystonia that begins in early childhood, manifested by dystonic posture of the limbs or neck, which respond dramatically to small doses of carbidopa-levodopa. Synonym(s):early childhood onset autosomal dominant dystonia ...
对患有多巴反应性肌张力障碍(Dopa-Responsive Dystonia)疾病的突变基因,从而使医生能够对他们的病症进行针对性的治 … www.39kf.com|基于36个网页 2. 多巴反应性肌张力失常 阿丽克西斯和她的双胞胎弟弟诺亚(Noah)患有一种罕见的遗传病:多巴反应性肌张力失常(Dopa-responsive dystonia)。不过 … ...
dopa-responsive dystoniaGTP cyclohydrolase Itetrahydrobiopterintyrosine hydroxylaseDYT14 dystoniaSynonyms Segawa syndrome; Dystonia 5; Hereditary progressive dystonia with marked diurnal fluctuation; HPD; DRD Definition and Characteristics DRD is a mostly autosomal dominant childhood onset dystonia characterized by ...
1.TH gene mutation in Chinese patients with autosomal recessive dopa-responsive dystonia;中国人常染色体隐性遗传性多巴反应性肌张力障碍TH基因突变分析 2.Objective:The clinical data of dopa-responsive dystonia(DRD) has been reviewed.目的:回顾多巴反应性肌张力障碍(dopa-responsive dystonia,DRD)的临床资料,以...
1) dopa-responsive dystonia 多巴反应性肌张力障碍 1. TH gene mutation in Chinese patients with autosomal recessivedopa-responsive dystonia; 中国人常染色体隐性遗传性多巴反应性肌张力障碍TH基因突变分析 2. Objective:The clinical data ofdopa-responsive dystonia(DRD) has been reviewed. ...
Dopa-responsive dystonia caused by TH gene variations: two cases report doi:10.3969/j.issn.1672-6731.2024.04.014GENETIC carriersGENETIC variationGENESDYSTONIAOXIDOREDUCTASESGENETIC mutationDOPAChinese Journal of Contemporary Neurology & NeurosurgeryWU QianZHAN Fei-xiaCAO...
Dopa-responsive dystonia in British patients: new mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity. Hum Mol Genet 1996; 5: 403±6Bandmann O, Nygaard T, Surtees T, Marsden CD, Wood NW, Harding AE. Dopa-responsive dystonia in British patients: new mutations of...
but their utilization is regularly recommended in combination withL-DOPA. They have a good effect on resting tremor. In addition,L-DOPA is dramatically effective in a primary form of generalized dystonia (levodopa sensitive). Moreover, low doses of dopaminergic agonists attenuate the symptomatologic...
We have identified a novel missense variant, c.5A > G, p.(Glu2Gly), within theGCH1gene in family with Dopa responsive dystonia (DRD) and parkinsonism. • Those with parkinsonism had abnormal DaTscans, indicating nigrostriatal neurodegeneration. ...
The diagnosis of a 14-year-old girl with a new homoallelic mutation in the sepiapterin reductase (SR) gene is reported. Initially she presented at the age ... NG Abeling,M Duran,HD Bakker,... - 《Molecular Genetics & Metabolism》 被引量: 72发表: 2006年 Are Dopa-responsive dystonia and...