Dementia Japan 31:18-23, 2017

Clinical feature and radiological findings of Neuronal intranuclear inclusion disease (NIID)

Jun Sone1,2)

1)Department of Neurology, Nagoya Graduate School of Medicine
2)Department of Therapeutics for Intractable Neurological Disorders, Nagoya Graduate School of Medicine

Neuronal intranuclear inclusion disease (NIID) is a slowly progressive neurodegenerative disease characterized by eosinophilic hyaline intranuclear inclusions in the nervous system, and in the visceral organs.  We studied sporadic and familial adult-onset NIID cases and described their clinical features.  In the sporadic NIID cases, dementia was the most prominent initial symptom, followed by miosis, ataxia and unconsciousness.  In familial NIID cases, we observed two groups of NIID cases “limb weakness dominant group” and “dementia dominant group”.  Head MRI showed high intensity signal in corticomedullary junction in diffusion weighted image (DWI) in both sporadic and familial NIID cases, a strong clue to the diagnosis.

Address correspondence to Dr. Jun Sone, Department of Neurology, Nagoya Graduate School of Medicine (65 Tsurumai, Showa, Nagoya, Aichi 466-8550, Japan)