Hagenah Johann M, Zühlke Christine, Hellenbroich Yorck, Heide Wolfgang, Klein Christine
Department of Neurology, University of Lübeck, Lübeck, Germany.
Mov Disord. 2004 Feb;19(2):217-20. doi: 10.1002/mds.10600.
We report on the clinical manifestation of spinocerebellar ataxia 17 (SCA17) in 3 members of a German family, in whom the pathological repeat expansion in the TATA-binding protein gene ranged from 53 to 55 repeats (normal: 29-42). The main clinical features were focal dystonia as presenting sign, followed by cerebellar ataxia, and, in the later course of one case, dementia and marked spasticity with signs of cerebellar and cerebral atrophy on brain computed tomography (CT) scan. In conclusion, SCA17 mutations should be considered in the differential diagnosis of focal dystonia.
我们报告了一个德国家庭中3名成员的脊髓小脑共济失调17型（SCA17）的临床表现，其TATA结合蛋白基因中的病理性重复扩增范围为53至55次重复（正常：29 - 42次）。主要临床特征是以局灶性肌张力障碍为首发症状，随后出现小脑共济失调，在其中1例病程后期出现痴呆以及明显的痉挛，脑部计算机断层扫描（CT）显示有小脑和大脑萎缩迹象。总之，在局灶性肌张力障碍的鉴别诊断中应考虑SCA17突变。
