Phenotypic bases of NOTCH2NLC GGC expansion positive neuronal intranuclear inclusion disease in a Southeast Asian cohort

• Main Authors: Chen, Zhiyong, Xu, Zheyu, Cheng, Qianhui, Tan, Jayne Yi, Ong, Helen L., Zhao, Yi, Lim, Weng Khong, Teo, Jing Xian, Foo, Jia Nee, Lee, Hwei Yee, Tan, Jeanne M. M., Hang, Liting, Yu, Wai-Yung, Ting, Simon K. S., Tan, Eng-King, Lim, Tchoyoson C. C., Ng, Adeline S. L.
• Other Authors: Lee Kong Chian School of Medicine (LKCMedicine)
• Format: Article
• Language: English
• Published: 2021
• Subjects: Science::Medicine; Diffusion-weighted Imaging; GGC Repeat Expansion
• Online Access: https://hdl.handle.net/10356/152268
• Institution: Nanyang Technological University

Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder associated with GGC repeats of >60 to 500 copies in the 5'-untranslated region of NOTCH2NLC. The clinical and genetic characterization of NIID outside of East Asia remains unknown. We identified twelve patients wh...