Article
Phenotypic bases of NOTCH2NLC GGC expansion positive neuronal intranuclear inclusion disease in a Southeast Asian cohort.
Clinical genetics - 1 Sept 2020
Chen Zhiyong, Xu Zheyu, Cheng Qianhui, Tan Yi Jayne, 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
Abstract excerpt
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 who underwent genetic testing using long-read sequencing or repeat primed polymerase chain reaction. All were positive for a...
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