PDF(Pubmed)
Abstract：
X-linked dystonia-parkinsonism (XDP) is an adult-onset neurodegenerative movement disorder, caused by a founder retrotransposon insertion in an intron of the TAF1 gene. This insertion contains a polymorphic hexanucleotide repeat (CCCTCT)n, the length of which inversely correlates with the age at disease onset (AAO) and other clinical parameters, aligning XDP with repeat expansion disorders. Nevertheless, many other pathogenic mechanisms are conceivably at play in XDP, indicating that in contrast to other repeat disorders, the (CCCTCT)n repeat may not be the actual (or only) disease cause. Here, we summarize and discuss genetic and molecular aspects of XDP, highlighting the role of the hexanucleotide repeat in age-related disease penetrance and expressivity.
摘要：
X连锁肌张力障碍-帕金森病（XDP）是一种成人发作的神经退行性运动障碍，由TAF1基因内含子中的创始人逆转录转座子插入引起。该插入包含多态性六核苷酸重复序列（CCCTCT）n，其长度与发病年龄（AAO）和其他临床参数呈负相关，将XDP与重复扩张障碍对齐。然而，可以想象许多其他致病机制在XDP中起作用，表明与其他重复疾病相比，（CCCTCT）n重复可能不是实际（或唯一）的疾病原因。这里,我们总结并讨论了XDP的遗传和分子方面，强调六核苷酸重复序列在年龄相关疾病外显率和表达能力中的作用。
