Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, Hunan, China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan, China.
Neurobiol Aging. 2021 Jan;97:144.e5-144.e7. doi: 10.1016/j.neurobiolaging.2020.07.008. Epub 2020 Jul 15.
Recent studies have identified an expanded GGC repeat in the 5' untranslated region of the NOTCH2NLC gene as a possible pathogenic genetic cause of neuronal intranuclear inclusion disease. Converging evidence verifying the presence of the same GGC repeat expansion in patients with Alzheimer's disease, Parkinson's disease, and other neurodegenerative diseases has also received increased attention. Inspired by some of the clinical similarities between neuronal intranuclear inclusion disease and multiple system atrophy (MSA), we used repeat-primed PCR to explore the occurrence of GGC repeats in 328 patients with MSA in mainland China. Our result failed to detect any GGC repeat expansion in these patients with MSA, indicating that the NOTCH2NLC gene may not be involved in the pathogenesis of MSA.
最近的研究已经确定，NOTCH2NLC 基因 5'非翻译区的扩展 GGC 重复可能是神经元核内包涵体病的潜在致病性遗传原因。越来越多的证据证实，阿尔茨海默病、帕金森病和其他神经退行性疾病患者中也存在相同的 GGC 重复扩展。受神经元核内包涵体病和多系统萎缩（MSA）之间一些临床相似性的启发，我们使用重复引物 PCR 在中国内地的 328 名 MSA 患者中探索 GGC 重复的发生情况。我们的结果未能在这些 MSA 患者中检测到任何 GGC 重复扩展，这表明 NOTCH2NLC 基因可能不参与 MSA 的发病机制。
