AI Article Synopsis

  • Neuronal intranuclear inclusion disease (NIID) is a neurological disorder marked by abnormal inclusions found in the nuclei of various cells, including those in systemic organs.
  • Key indicators for diagnosing NIID include specific imaging signals on diffusion-weighted MRI and the identification of p62-positive inclusions in skin biopsies.
  • The report discusses a case of an older male adult with NIID, highlighting notable imaging findings and confirming similar pathological changes in brain structures.

Article Abstract

Neuronal intranuclear inclusion disease (NIID) is a neurological disorder characterized by eosinophilic intranuclear inclusions (INI) in systemic organs and various cell types. High-intensity signals along the corticomedullary junction on diffusion-weighted imaging and presence of cellular p62-INI in skin biopsy are known indicators for NIID. Furthermore, GGC repeat expansion in is a characteristic genetic alteration in patients with NIID. This report presents the clinical and detailed pathological features of a male older adult with NIID. We also confirmed the presence of fluid-attenuated inversion recovery high-intensity signals in the cerebellar paravermal area, showing similar pathological changes in high-intensity signals along the corticomedullary junction on diffusion-weighted imaging.

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http://dx.doi.org/10.5414/NP301499DOI Listing

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