BRAIN and NERVE Shinkei Kenkyu no Shinpo Volume 69, Issue 1 (January 2017)
Japanese

Neuronal Intranuclear Inclusion Disease Jun Sone 1,2 , Gen Sobue 3 1Department of Neurology, Nagoya University Graduate School of Medicine 2Department of Therapeutics for Intractable Neurological Disorders, Nagoya University Graduate School of Medicine 3Brain and Mind Research Center, Nagoya University Graduate School of Medicine Keyword: 核内封入体 , 白質脳症 , 認知症 , 皮膚生検 , 拡散強調画像 , intranuclear inclusion , leukoencephalopathy , dementia , skin biopsy , diffusion weighted image pp.5-16
Published Date 2017/1/1
DOI https://doi.org/10.11477/mf.1416200628
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Abstract

Neuronal intranuclear inclusion disease (NIID) is a gradually progressing neurodegenerative disease characterized by eosinophilic hyaline intranuclear inclusions in the central and peripheral nervous systems and in certain visceral organs. The number of reported cases of NIID has recently increased after the introduction of skin biopsy for the diagnosis of NIID. Patients with sporadic NIID usually present with dementia, elevation of overall protein levels in the cerebrospinal fluid, leukoencephalopathy on head magnetic resonance imaging (MRI), and high signal intensity in the corticomedurally junction on a diffusion-weighted (DW) imaging. Among patients with familial NIID with age at onset <40 years, muscle weakness is observed most frequently; these cases are classified in the “limb weakness group.” Among patients with familial NIID with age at onset >40 years, dementia is the most prominent symptom; these cases are classified in the “dementia dominant group.” We proposed a flowchart for diagnosis adult-onset NIID. The prevalence rate of adult-onset NIID may be higher than previously thought, and NIID may be underdiagnosed in the population. NIID must be considered during the differential diagnosis of leukoencephalopathy and neuropathy, for which this flowchart for adult-onset NIID diagnosis may prove beneficial.


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基本情報

18816096.69.1.jpg
BRAIN and NERVE-神経研究の進歩
69巻1号 (2017年1月)
電子版ISSN 1344-8129 印刷版ISSN 1881-6096 医学書院

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