Trinucleotide repeat disorders
Trinucleotide repeat disorders
复制标题
DOI：
10.1016/b978-0-12-802395-2.00027-4
复制
发表时间：
2018-01-01
期刊：
影响因子：
2.3
通讯作者：
den Dunnen, W. F. A.
中科院分区：
文献类型：
--
作者：
den Dunnen, W. F. A.
三核苷酸重复疾病包括一组可变的遗传性神经退行性疾病，患病率数字范围很大。临床表现多种多样，但其中许多疾病会导致某种形式的共济失调或其他运动障碍，经常合并认知或精神障碍。这一组可分为CAG重复型和非CAG重复型。除了脊髓小脑性共济失调6型和12型(SCA6和SCA12)，这些CAG重复疾病，以及亨廷顿病样2(HDL2)和SCA8，可以用1C2多谷氨酰胺抗体进行神经病理学鉴定。在脆性X相关震颤和共济失调中，可以观察到SCA6和SCA12泛素/p62阳性和1C2阴性的包涵体。在其他疾病中，未发现蛋白质包涵体。为了明确诊断，基因分析是必要的。
Trinucleotide repeat disorders comprise a variable group of inherited neurodegenerative diseases, with a large range in prevalence figures. There is a broad range in clinical presentations, but many of these diseases lead to some form of ataxia or other movement disorders, which are frequently combined with cognitive or psychiatric disturbances. This group can be divided into CAG-versus non-CAG-repeat diseases. Apart from spinocerebellar ataxia type 6 and 12 (SCA6 and SCA12), theseCAG-repeat diseases, as well as Huntington disease-like 2 (HDL2) and SCA8, can be neuropathologically identified using 1C2 polyglutamine antibodies. In fragile X-associated tremor and ataxia, SCA6 and SCA12 ubiquitin/ p62-positive and 1C2-negative inclusion bodies can be observed. In the other diseases proteinaceous inclusions are not found. For definite diagnosis genetic analysis is necessary.