Neuronal intranuclear inclusion disease with subtle imaging findings: a case report and literature review

Patients with NIID show characteristic DWI hyperintensity at the corticomedullary junction during symptoms. This early imaging finding is subtle and often overlooked. For patients with dementia and episodic encephalopathy, observing radiological changes, along with genetic and skin biopsies, is indispensable.

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Publication Details

Journal
BMJ Neurology Open
Published
2025-08-01
DOI
https://doi.org/10.1136/bmjno-2025-001033
Citations
2
Primary Topic
Genetic Neurodegenerative Diseases
Type
article
Field-Weighted Citation Impact
1.82
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article

Neuronal intranuclear inclusion disease with subtle imaging findings: a case report and literature review

Meiduo Gesang, Chenling Hu, Ziyang Huang, Tian Zhang et al.
2 citations
BMJ Neurology Open
Genetic Neurodegenerative Diseases
1.82
article

Neuronal intranuclear inclusion disease with subtle imaging findings: a case report and literature review

Meiduo Gesang, Chenling Hu, Ziyang Huang, Tian Zhang, Xiaoying Zhang, Yuwen Wang, Jiehua Ma
article en
2 citations

Abstract

Patients with NIID show characteristic DWI hyperintensity at the corticomedullary junction during symptoms. This early imaging finding is subtle and often overlooked. For patients with dementia and episodic encephalopathy, observing radiological changes, along with genetic and skin biopsies, is indispensable.

BMJ Neurology OpenVol. 7(2)
Hangzhou Seventh Peoples Hospital (CN)
Openalex Percentile: Top 14%
Genetic Neurodegenerative Diseases
1.82
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