Article
NOTCH2NLC GGC Repeat Expansions Are Associated with Sporadic Essential Tremor: Variable Disease Expressivity on Long-Term Follow-up.
Annals of neurology - 1 Sept 2020
Ng Adeline S L, Lim Weng Khong, Xu Zheyu, Ong Helen L, Tan Yi Jayne, Sim Wei Ying, Ng Ebonne Y L, Teo Jing Xian, Foo Jia Nee, Lim Tchoyoson C C, Yu Wai-Yung, Chan Ling-Ling, Lee Hwei-Yee, Chen Zhiyong, Lim Ee-Wei, Ting Simon K S, Prakash Kumar M, Tan Louis C S, Yi Zhao, Tan Eng-King
Abstract excerpt
We screened 662 subjects comprising 462 essential tremor (ET) subjects (285 sporadic, 125 with family history, and 52 probands from well-characterized ET pedigrees) and 200 controls and identified pathogenic NOTCH2NLC GGC repeat expansions in 4 sporadic ET patients. Two patients were followed up for >1 decade; one with 90 repeats remained an ET phenotype that did not evolve after 40 years, whereas another patient...
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