Trinucleotide GGC repeat expansion in the 5’UTR of the NOTCH2NLC gene has been recognized as the pathogenesis of neuronal intranuclear inclusion disease (NIID). Previous studies have described that some NIID patients showed clinical and pathological similarities with multiple system atrophy (MSA). This study aimed to address the possibility that GGC repeat expansion in NOTCH2NLC might be associated with some cases diagnosed as MSA.

中文翻译：

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在患有多系统萎缩的患者中重复扩增NOTCH2NLC基因。

在NOTCH2NLC基因的5'UTR中的三核苷酸GGC重复扩增已被认为是神经元核内包涵体疾病（NIID）的发病机理。先前的研究描述了一些NIID患者在临床和病理上与多系统萎缩（MSA）有相似之处。这项研究旨在解决在NOTCH2NLC中GGC重复扩增可能与某些诊断为MSA的病例有关的可能性。