| Kazuki Watanabe, Tomoyasu Bunai, Masamune Sakamoto, Sayaka Ishigaki, Takamasa Iwakura, Naro Ohashi, Rie Wakatsuki, Akiyuki Takenouchi, Moriya Iwaizumi, Yoshihiro Hotta, Ken Saida, Eriko Koshimizu, Satoko Miyatake, Hirotomo Saitsu, Naomichi Matsumoto, Tomohiko Nakamur. A family with neuronal intranuclear inclusion disease with focal segmental glomerulosclerosis. Journal of neurology. 2024-07-30. PMID:39078482. |
neuronal intranuclear inclusion disease (niid) is a rare neurodegenerative disease caused by the expansion of ggc repeats in the 5'-untranslated region (5'-utr) of notch2nlc. |
2024-07-30 |
2024-08-02 |
Not clear |
| Lei Bao, Dandan Zuo, Qingjie Li, Hao Chen, Guiyun Cu. Current advances in neuronal intranuclear inclusion disease. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. 2023-02-16. PMID:36795299. |
moreover, continuous reports of notch2nlc ggc expansions in patients with other neurodegenerative diseases lead to the proposal of a new concept of notch2nlc-related ggc repeat expansion disorders (nred). |
2023-02-16 |
2023-08-14 |
Not clear |
| Yun Tian, Jun-Ling Wang, Wen Huang, Sheng Zeng, Bin Jiao, Zhen Liu, Zhao Chen, Yujing Li, Ying Wang, Hao-Xuan Min, Xue-Jing Wang, Yong You, Ru-Xu Zhang, Xiao-Yu Chen, Fang Yi, Ya-Fang Zhou, Hong-Yu Long, Chao-Jun Zhou, Xuan Hou, Jun-Pu Wang, Bin Xie, Fan Liang, Zhuan-Yi Yang, Qi-Ying Sun, Emily G Allen, Andrew Mark Shafik, Ha Eun Kong, Ji-Feng Guo, Xin-Xiang Yan, Zheng-Mao Hu, Kun Xia, Hong Jiang, Hong-Wei Xu, Ran-Hui Duan, Peng Jin, Bei-Sha Tang, Lu She. Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders. American journal of human genetics. vol 105. issue 1. 2020-03-11. PMID:31178126. |
therefore, we suggest defining a term niid-related disorders (niidrd), which will include niid and other related neurodegenerative diseases caused by the expanded ggc repeat within human-specific notch2nlc. |
2020-03-11 |
2023-08-13 |
human |