1.A Case of Neuronal Intranuclear Inclusion Disease Presenting Predominantly with Stroke-like Episodes and Literature Review
Tianqing ZHANG ; Kefei YANG ; Yuying YAN ; Luosang DANZENG ; Yuan SHI ; Bo WU ; Qin ZHANG
JOURNAL OF RARE DISEASES 2026;5(3):355-359
Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disorder. Some NIID patients may present with paroxysmal neurological symptoms, posing challenges for clinical diagnosis. Thisarticle reports a 68-year-old male NIID patient presenting predominantly with stroke-like episodes. The patient was admitted with sudden-onset right-sided limb weakness, and had a prior history of cognitive decline and bradykinesia. Brain magnetic resonance imaging revealed severe subcortical white-matter hyperintensities in bilateral cerebral hemispheres on fluid-attenuated inversion recovery sequences, as well as characteristic "ribbon sign" at the corticomedullary junction on diffusion-weighted imaging. Genetic testing identified an abnormal GGC repeat expansion of 112 times in the
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