Abstract
Background
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.
Methods
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.
Results
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 inclusions were observed in all patients, while patient 1 simultaneously had many nuclei full of abnormal substance immunopositive to p62, as well as short-curly filament materials on electron microscopy. All patients were identified to have GGC repeat expansion in the NOTCH2NLC gene.
Conclusion
Post-contrast MRI should be routinely performed in the adult-onset NIID patients. Some patients with adult-onset NIID showed cortical enhancement and edema along the surface of posterior cortex, indicating that dehydrate and anti-inflammatory drugs might be potential therapies for these patients.
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Data availability
All relevant data are described in the paper. Deidentified data can be requested. Data can be requested by all interested researchers, who can be contacted via the corresponding author.
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Acknowledgements
The authors would appreciate the patients and their families for their enthusiasm and participation in this study.
Funding
The work was supported by the National Natural Science Foundation of China (No. 81460199), and Double thousand talents program of Jiangxi province.
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LH and WB draft manuscript and analysis of data. WL, WH, and LX and contributed to the acquisition and analysis of data. ZM, DJ, and WZ and performed the genetic analysis and pathological study. CY and YY contributed to the critical revision of the manuscript. FP and HD contributed to the study design and drafting the manuscript.
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The research was approved by ethics committee of the first affiliated hospital of Nanchang University.
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Liang, H., Wang, B., Li, Q. et al. Clinical and pathological features in adult-onset NIID patients with cortical enhancement. J Neurol 267, 3187–3198 (2020). https://doi.org/10.1007/s00415-020-09945-7
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DOI: https://doi.org/10.1007/s00415-020-09945-7