GENE MAPPING OF IDIOPATHIC FOCAL DYSTONIA: MOVEMENT DISORDERS

特发性局灶性肌张力障碍的基因图谱：运动障碍

• 批准号: 6491949
• 负责人: Jane M. Olson
• 金额: $ 29.46万
• 依托单位: CASE WESTERN RESERVE UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2001
• 资助国家: 美国
• 起止时间: 2001-09-01 至 2002-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6491949
• 关键词: biomedical resource; epidemiology; genetics; genome; musculoskeletal system; nervous system

Dystonia is a movement disorder with numerous etiologies, some genetic. The idiopathic adult focal dystonias (IAD) have varying phenotypes and age at onset and may be autosomal dominant in inheritance. We are currently collecting a projected 150 IAD families so that a genome scan may be performed. We have previously detected genetic anticipation in a smaller set of data and will also search for IAD loci by screening for trinucleotide repeat expansions.

肌张力障碍是一种具有多种病因的运动障碍，有些 遗传。 特发性成人局灶性障碍（IAD）有不同的 发作时的表型和年龄，在 遗产。 我们目前正在收集一个预计的150个IAD家庭 因此可以进行基因组扫描。 我们以前已经检测到 较小数据集中的遗传预期，也将搜索 通过筛选三核苷酸重复膨胀，IAD基因座。