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[Neuronal Intranuclear Inclusion Disease].
Brain Nerve. 2017 Jan; 69(1):5-16.BN

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.

Authors+Show Affiliations

Department of Neurology, Nagoya University Graduate School of Medicine.No affiliation info available

Pub Type(s)

Journal Article

Language

jpn

PubMed ID

28126973

Citation

Sone, Jun, and Gen Sobue. "[Neuronal Intranuclear Inclusion Disease]." Brain and Nerve = Shinkei Kenkyu No Shinpo, vol. 69, no. 1, 2017, pp. 5-16.
Sone J, Sobue G. [Neuronal Intranuclear Inclusion Disease]. Brain Nerve. 2017;69(1):5-16.
Sone, J., & Sobue, G. (2017). [Neuronal Intranuclear Inclusion Disease]. Brain and Nerve = Shinkei Kenkyu No Shinpo, 69(1), 5-16. https://doi.org/10.11477/mf.1416200628
Sone J, Sobue G. [Neuronal Intranuclear Inclusion Disease]. Brain Nerve. 2017;69(1):5-16. PubMed PMID: 28126973.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Neuronal Intranuclear Inclusion Disease]. AU - Sone,Jun, AU - Sobue,Gen, PY - 2017/1/28/entrez PY - 2017/1/28/pubmed PY - 2017/6/1/medline SP - 5 EP - 16 JF - Brain and nerve = Shinkei kenkyu no shinpo JO - Brain Nerve VL - 69 IS - 1 N2 - 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. SN - 1881-6096 UR - https://www.unboundmedicine.com/medline/citation/28126973/[Neuronal_Intranuclear_Inclusion_Disease]. L2 - https://webview.isho.jp/openurl?rft.genre=article&amp;rft.issn=1881-6096&amp;rft.volume=69&amp;rft.issue=1&amp;rft.spage=5 DB - PRIME DP - Unbound Medicine ER -