Essential tremor as the early symptom of NOTCH2NLC gene-related repeat expansion disorder.,Brain

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Essential tremor as the early symptom of NOTCH2NLC gene-related repeat expansion disorder.
Brain ( IF 14.5 ) Pub Date : 2020-05-25 , DOI: 10.1093/brain/awaa142
Hao Chen _{1,

2} , Likui Lu ₃ , Bin Wang ₄ , Xiaodong Hua _{5,

6} , Bo Wan ₄ , Miao Sun ₃ , Xingshun Xu _{1,

4,

7}

Affiliation

We read with great interest the recent article by Sun et al. titled ‘Expansion of GGC repeat in the human-specific NOTCH2NLC gene is associated with essential tremor’, which reported that abnormal GGC repeat expansion in the NOTCH2NLC gene was found in 11 families from a cohort study of 197 Chinese pedigrees clinically diagnosed with essential tremor (Sun et al., 2020). A recent work from the same group showed that expanded GGC repeats in the NOTCH2NLC gene cause neuronal intranuclear inclusion disease (NIID) and NIID-related diseases including Alzheimer disease and Parkinson disease (Tian et al., 2019). This raises a few...

更新日期：2020-07-16

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