title: [Neuronal intranuclear hyaline inclusion disease (NIHID): an update].
abstract: Neuronal intranuclear hyaline inclusion disease (NIHID) is a neurodegenerative disorder characterized by eosinophilic intranuclear inclusions in neuronal cells. Such inclusions are also found in non-neuronal cells. The clinical features and pathological findings in patients with NIHID are highly varied, and NIHID is therefore considered a heterogeneous disease entity. It can be categorized into three clinical subgroups based on disease onset and duration: the infantile, juvenile, and adult forms. The infantile and juvenile forms are generally associated with slowly progressive multiple-system degeneration. Recently, reports of patients with adult form NIHID have increased. Major symptoms in typical adult-onset cases are memory loss, cognitive dysfunction, and disorientation. Autonomic dysfunctions and peripheral neuropathy are also frequently observed. This type of adult-onset NIHID can be predicted by characteristic MRI findings-leukoencephalopathy with high intensity of the corticomedullary junction in diffusion-weighted imaging. Ante-mortem diagnosis of NIHID can be made by identification of intranuclear inclusions in skin or rectal biopsies. Intranuclear accumulation of abnormal proteins and/or dysfunction of protein degradation might underlie the pathogenesis of NIHID; however, the disease mechanisms remain largely unknown.
authors: Division of Neuropathology, The Jikei University.
authors: Junko
authors: J
authors: Takahashi-Fujigasaki
mesh_terms: D000818:Animals; D002467:Cell Nucleus / Q000378:metabolism; D006801:Humans; D006818:Hyalin / Q000378:metabolism*; D045586:Intranuclear Inclusion Bodies / Q000378:metabolism / Q000473:pathology*; D009410:Nerve Degeneration / Q000378:metabolism* / Q000473:pathology; D019636:Neurodegenerative Diseases / Q000378:metabolism* / Q000473:pathology*; D009474:Neurons / Q000473:pathology