Illarioshkin S N, Igarashi S, Onodera O, Markova E D, Nikolskaya N N, Tanaka H, Chabrashwili T Z, Insarova N G, Endo K, Ivanova-Smolenskaya I A
Department of Neurology, Niigata University, Japan.
Ann Neurol. 1994 Oct;36(4):630-5. doi: 10.1002/ana.410360412.
The Huntington's disease gene contains an expanded unstable (CAG)n repeat, and the repeat lengths have been shown to correlate with the age of onset. Using detailed clinical scales, we evaluated the rate of progression of Huntington's disease and its relationship to the number of triplet repeats. We found significant positive correlation between the rate of progression of clinical symptoms (both neurological and psychiatric) and CAG repeat length. These data suggest an important role of expanded trinucleotide repeat length in affecting the pathological process during the entire course of Huntington's disease.
亨廷顿舞蹈症基因包含一段扩增的不稳定（CAG）n重复序列，且已证明重复序列长度与发病年龄相关。我们使用详细的临床量表评估了亨廷顿舞蹈症的进展速度及其与三联体重复序列数量的关系。我们发现临床症状（包括神经和精神症状）的进展速度与CAG重复序列长度之间存在显著正相关。这些数据表明，扩增的三核苷酸重复序列长度在亨廷顿舞蹈症整个病程中影响病理过程方面起着重要作用。
