Work

Neuronal intranuclear inclusion disease complicated by acute middle cerebral artery infarction: A case report

Year: 2025

Type: article

Abstract: BACKGROUND: Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disorder with no prior reports linking it to acute large-vessel cerebral infarction. METHODS: A 65-year-old man with progressive limb numbness and acute neuropsychiatric symptoms underwent MRI, skin biopsy, and genetic testing. RESULTS: MRI revealed corticomedullary "ribbon signs" and right middle cerebral artery (MCA) stenosis. Follow - up imaging not only confirmed the occlusion of the MCA accompanied by an infarction in the basal ganglia but also indicated an enlargement of the "ribbon signs". Skin biopsy showed p62-positive intranuclear inclusions; genetic testing identified a NOTCH2NLC GGC expansion (>41 repeats). Despite treatment, the patient died of pneumonia three months post-infarction. CONCLUSIONS: This single-case, first-reported observational study of NIID with large-vessel stenosis illustrates a potential vasculopathic link. While robust histopathological validation is pending, the temporal correlation between NIID progression and vascular events warrants further investigation.

Source: Journal of Stroke and Cerebrovascular Diseases

DOI: 10.1016/j.jstrokecerebrovasdis.2025.108424

Authors: Xueming Li, Weijiang Ding, Tao Jiang

Institutions: Second Affiliated Hospital of Nanchang University, First Affiliated Hospital of Gannan Medical University

Language: English

Topic: Genetic Neurodegenerative Diseases

Subfield: Cellular and Molecular Neuroscience

Field: Neuroscience

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,170