在一个瑞典家族中，成人起病的特发性扭转性肌张力障碍被排除在DYT 1区域（9q34）之外。
Adult onset idiopathic torsion dystonia is excluded from the DYT 1 region (9q34) in a Swedish family.
作者信息
Holmgren G, Ozelius L, Forsgren L, Almay B G, Holmberg M, Kramer P, Fahn S, Breakefield X O
机构信息
Department of Clinical Genetics/Applied Cell and Molecular Biology, University Hospital, Umeå, Sweden.
出版信息
J Neurol Neurosurg Psychiatry. 1995 Aug;59(2):178-81. doi: 10.1136/jnnp.59.2.178.
A gene (DYT1) for early onset idiopathic torsion dystonia was mapped to chromosome 9q34 in non-Jewish and Jewish families. The DYT1 gene region has been excluded in other families with adult onset and cervical or cranial onset idiopathic torsion dystonia from the United States, Great Britain, and France. The role of DYT1 in a Swedish family with adult onset idiopathic torsion dystonia in four generations was examined. The disease seems to be inherited in an autosomal dominant mode with reduced penetrance in this family. There were 10 affected family members, with a mean age of onset of 27 (range 18 to 50) years. The disease showed variable expression, with focal, multifocal, and generalised forms of dystonia in different family members. Genetic analysis excluded the chromosomal region containing the DYT1 locus as being responsible for dystonia in this family.
一个早发性特发性扭转性肌张力障碍基因（DYT1）在非犹太和犹太家庭中被定位到9号染色体长臂34区。在美国、英国和法国的其他成年发病以及颈部或头部发病的特发性扭转性肌张力障碍家庭中，DYT1基因区域已被排除。研究了DYT1在一个四代均有成年发病的特发性扭转性肌张力障碍瑞典家庭中的作用。在这个家庭中，该疾病似乎以常染色体显性模式遗传，外显率降低。有10名受影响的家庭成员，平均发病年龄为27岁（范围为18至50岁）。该疾病表现出可变的症状，不同家庭成员有局灶性、多灶性和全身性肌张力障碍形式。基因分析排除了包含DYT1基因座的染色体区域是该家庭肌张力障碍的病因。
Zotero 插件