BRAIN and NERVE Shinkei Kenkyu no Shinpo Volume 67, Issue 2 (February 2015)

Neuronal Intranuclear Hyaline Inclusion Disease (NIHID): An Update Junko Takahashi-Fujigasaki 1 1Division of Neuropathology, The Jikei University Keyword: エオジン好性核内封入体病 , 成人型 , 認知症 , 白質脳症 , 生検 , neuronal intranuclear inclusion disease , adult form , cognitive impairment , leukoencephalopathy , biopsy pp.199-204
Published Date 2015/2/1
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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.

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BRAIN and NERVE-神経研究の進歩
67巻2号 (2015年2月)
電子版ISSN 1344-8129 印刷版ISSN 1881-6096 医学書院