Research progress in neuronal intranuclear inclusion disease

Abstract

Neuronal intranuclear inclusion disease (NIID) is a slowly progressive neurodegenerative disease characterized by localized neuronal loss, and the presence of eosinophilic intranuclear inclusions in neurons and glial cells. Biopsy samples of skin, rectal and sural nerve showed hyaline intranuclear inclusions. Reported NIID cases showed familial type according to family history, and three clinical subgroups (infantile, juvenile and adult form) according to onset and disease duration. NIID has been considered as a heterogeneous disease because of the highly variable clinical manifestations including cognitive dysfunction, parkinsonism, cerebellar ataxia, peripheral neuropathy and autonomic dysfunction. Additionally, some NIID cases presented episodes of conscious disturbance, cognitive decline, movement disorder or even fever. Head magnetic resonance imaging of some patients revealed symmetrical leukoencephalopathy in T2 image and fluid attenuated inversion recovery image and high intensity signal in corticomedullary junction in diffusion weighted image. But it is not the only abnormal finding of imaging, and other diseases may also present the similar changing. Other diseases including fragile X-associated tremor-ataxia syndrome, Huntington′s disease and spinocerebellar ataxia should be considered in differential diagnosis. Key words: Neuronal intranuclear inclusion disease; Neurodegenerative disease; Dementia; Peripheral neuropathy; Fragile X-associated tremor-ataxia syndrome