Adult-onset Neuronal Intranuclear Inclusion Disease Presenting with Intermittent Visual Disturbances and Right Hemiparesis: Clinical Significance and Diagnostic Approach

Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disorder characterized by the presence of eosinophilic nuclear inclusions in neurons and somatic cells. It clinically manifests as cognitive decline, seizures, and autonomic dysfunction. A 44-year-old man presented with a transient visual field defect and hemiparesis. Based on characteristic imaging findings and pathological findings, NIID was suspected and diagnosed through genetic testing. This case emphasizes the importance of comprehensive clinical phenotype analysis and accurate genetic diagnosis.

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Publication Details

Journal
Journal of the Korean Neurological Association
Published
2025-04-30
DOI
https://doi.org/10.17340/jkna.2024.0073
Primary Topic
Cerebrovascular and genetic disorders
Type
article
Field-Weighted Citation Impact
0.00

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article

Adult-onset Neuronal Intranuclear Inclusion Disease Presenting with Intermittent Visual Disturbances and Right Hemiparesis: Clinical Significance and Diagnostic Approach

Jiyun Lee, Yunjung Choi, Takeshi Mizuguchi, HanKyeol Kim et al.
Journal of the Korean Neurological Association
Cerebrovascular and genetic disorders
article

Adult-onset Neuronal Intranuclear Inclusion Disease Presenting with Intermittent Visual Disturbances and Right Hemiparesis: Clinical Significance and Diagnostic Approach

Jiyun Lee, Yunjung Choi, Takeshi Mizuguchi, HanKyeol Kim, Naomichi Matsumoto, Won‐Joo Kim, Hyunjin Park, Hanna Cho, Hyung Jun Park, Doyeon Kook
article en

Abstract

Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disorder characterized by the presence of eosinophilic nuclear inclusions in neurons and somatic cells. It clinically manifests as cognitive decline, seizures, and autonomic dysfunction. A 44-year-old man presented with a transient visual field defect and hemiparesis. Based on characteristic imaging findings and pathological findings, NIID was suspected and diagnosed through genetic testing. This case emphasizes the importance of comprehensive clinical phenotype analysis and accurate genetic diagnosis.

Journal of the Korean Neurological AssociationVol. 43(2)
Korea National Institute of Health
Openalex Percentile: Top 85%
Cerebrovascular and genetic disorders
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Adult-onset Neuronal Intranuclear Inclusion Disease Presenting with Intermittent Visual Disturbances and Right Hemiparesis: Clinical Significance and Diagnostic Approach — Jiyun Lee, Yunjung Choi, et al. · Journal of the Korean Neurological Association (2025) | TGRS Research Map | TGRS