Hofgärtner W T, La Spada A R, Tait J F
University of Washington Medical Center, Department of Laboratory Medicine, Seattle 98195-7110, USA.
Brain Pathol. 1998 Jan;8(1):237-8.
A 13-year-old girl presented with a two year history of declining school performance, loss of coordination, and increased difficulty with sports. The family history was positive for Huntington's disease (HD). An MRI was suggestive for bilateral atrophy of the caudate. HD is autosomal dominant and the HD gene contains a polymorphic trinucleotide (CAG) repeat, which is expanded beyond 36 CAG repeats in HD. This patient had one normal-sized allele and one abnormally expanded allele with 68 CAG repeats, confirming the clinical diagnosis of HD. Juvenile onset of HD is uncommon, and is associated with unusually large CAG repeat numbers as was observed in this patient.
一名13岁女孩出现学习成绩下降、协调性丧失和运动困难增加已有两年时间。家族病史显示亨廷顿舞蹈症（HD）呈阳性。磁共振成像（MRI）提示双侧尾状核萎缩。HD是常染色体显性遗传，HD基因包含一个多态性三核苷酸（CAG）重复序列，在HD中该序列扩展超过36个CAG重复。该患者有一个正常大小的等位基因和一个异常扩展的等位基因，有68个CAG重复，证实了HD的临床诊断。HD的青少年发病并不常见，且如该患者所见，与异常大的CAG重复数有关。
