We read with interest two separate reports in Brain (Sone et al., 2016; Sun et al., 2020) on neuronal intranuclear inclusion body disease (NIID), a neurodegenerative disease characterized by eosinophilic intranuclear inclusions in neuronal and glial cells. Sone et al. (2016) had initially reported clinically well characterized cases of NIID that included clinical features of dementia, muscle weakness, neuropathy, parkinsonism, tremor and ataxia. A characteristic MRI feature of NIID is bilateral hyperintensity at the junction between grey and white matter on diffusion-weighted imaging (DWI) (Sone et al., 2016; Yu et al., 2019). The causative genetic abnormality in NIID was recently identified to be due to GGC repeat expansions (>60 to 500 copies) in the 5′ region of the NOTCH2NLC gene (Ishiura et al., 2019; Sone et al., 2019; Tian et al., 2019). The phenotype has since been expanded to include familial essential tremor by Sun et al. (2020).

中文翻译：

---

NOTCH2NLC连锁的神经元核内包涵体病和脆弱的X相关震颤/共济失调综合征。

我们感兴趣地阅读了Brain（Sone等人，2016; Sun等人，2020）上的两个有关神经元核内包涵体疾病（NIID）的报告，这是一种神经退行性疾病，其特征在于神经元和神经胶质细胞中嗜酸性核内包涵体。Sone等。（2016）最初报道了具有良好临床特征的NIID病例，包括痴呆症，肌肉无力，神经病，帕金森病，震颤和共济失调的临床特征。NIID的特征性MRI特征是在弥散加权成像（DWI）上灰质和白质之间的交界处出现双侧高信号（Sone等人，2016; Yu等。，2019）。最近发现NIID的致病性遗传异常是由于NOTCH2NLC基因5'区域的GGC重复扩增（> 60至500拷贝）引起的（Ishiura等，2019; Sone等，2019; Tian等） 。，2019）。此后，Sun等人将该表型扩展到包括家族性原发性震颤。（2020）。