Andrich Jürgen, Arning Larissa, Wieczorek Stefan, Kraus Peter H, Gold Ralf, Saft Carsten
Department of Neurology, St. Josef Hospital Bochum, Ruhr-University Bochum, Gudrunstr. 56, Bochum, Germany.
Mov Disord. 2008 Apr 30;23(6):879-81. doi: 10.1002/mds.21958.
Huntington's disease (HD) is an autosomal dominantly inherited neurodegenerative disorder caused by an abnormal expansion of a polymorphic stretch of CAG repeats in the coding 5' part of the HD gene on chromosome 4p. Expansions of CAG blocks beyond 35 repeats are associated with the clinical presentation of HD. There is an intermediate range of rare alleles between 27 and 35 CAG repeats with a higher risk for further expansion in subsequent generations. Here, we report a 75-year-old male with clinical features of HD and 34 CAG repeat units.
亨廷顿舞蹈症（HD）是一种常染色体显性遗传的神经退行性疾病，由位于4号染色体短臂上的HD基因编码区5'端多态性CAG重复序列异常扩增引起。CAG重复序列超过35次的扩增与HD的临床表现相关。存在一个罕见等位基因的中间范围，其CAG重复次数在27至35次之间，在后代中进一步扩增的风险更高。在此，我们报告一名75岁男性，具有HD的临床特征且CAG重复单元为34次。
