Clinical and pathological features in adult-onset NIID patients with cortical enhancement.

Journal of Neurology
Huiting LiangDaojun Hong

Abstract

Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disease characterized by eosinophilic hyaline intranuclear inclusions in multiple organs. On conventional MRI, high signals on diffused weight image (DWI) along the corticomedullary junction have demonstrated great diagnostic values for adult-onset NIID. However, changes of contrast MRI in the acute period of the encephalopathy-like episode have rarely been investigated. Patients with enhanced lesions were retrieved in our database including 35 patients with adult-onset NIID between October 2017 and December 2019. Conventional and contrast MRI were conducted in all patients. Standard procedures of skin biopsy were performed in all patients. Repeat-primed PCR and amplicon length PCR were used to screen the GGC expansion in the 5'UTR of the NOTCH2NLC gene. Four of 35 patients (11.4%) were identified to have a cortical enhancement in this study. The enhanced lesions were selectively spread along the surface of posterior cortex and were clinically associated with encephalopathy-like episodes. These patients had a younger age of onset, shorter duration of disease, and a higher incidence of a headache than those without enhancement. Typical p62-postive intranuclear...Continue Reading

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Citations

Sep 4, 2020·Neuroradiology·Laurens J L De Cocker, Mauricio Castillo
Feb 19, 2021·Journal of Neural Transmission·Xi Lu, Daojun Hong
Feb 25, 2021·Acta neurologica Belgica·Yuwen CaoXinghua Luan
May 5, 2021·Annals of Clinical and Translational Neurology·Jiaxi YuZhaoxia Wang
Mar 12, 2021·Brain : a Journal of Neurology·Jiaxi YuZhaoxia Wang
Aug 2, 2021·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Lanxiao CaoGuohua Zhao
Nov 20, 2021·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Chang LiuDa Long
Jan 14, 2022·Nature Reviews. Neurology·Zhi-Dong ZhouEng-King Tan

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