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[Neuronal intranuclear inclusion disease (NIID)].
Rinsho Shinkeigaku. 2020 Oct 24; 60(10):653-662.RS

Abstract

Neuronal intranuclear inclusion disease (NIID) is a progressive neurodegenerative disease that had been diagnosed by autopsy until recently, but the number of cases has increased since skin biopsy was reported to be useful in 2011. In 2019, the genetical cause of NIID was identified as the extension of the GGC repeat sequence on the NOTCH2NLC gene, and genetic diagnosis became possible. In NIID, there are two groups: a group onset with cognitive dysfunction, and with leukoencephalopathy on head MRI and a high intensity signal at the corticomedurally junction on DWI, and a group with limb weakness. It is necessary to include NIID in the differential diagnosis of leukoencephalopathy and neuropathy, and it is necessary to combine skin biopsy and genetic testing to accurately diagnose of NIID and promote pathological elucidation.

Authors+Show Affiliations

Department of Neurology, National Hospital Organization Suzuka National Hospital.

Pub Type(s)

Journal Article
Review

Language

jpn

PubMed ID

32893241

Citation

Sone, Jun. "[Neuronal Intranuclear Inclusion Disease (NIID)]." Rinsho Shinkeigaku = Clinical Neurology, vol. 60, no. 10, 2020, pp. 653-662.
Sone J. [Neuronal intranuclear inclusion disease (NIID)]. Rinsho Shinkeigaku. 2020;60(10):653-662.
Sone, J. (2020). [Neuronal intranuclear inclusion disease (NIID)]. Rinsho Shinkeigaku = Clinical Neurology, 60(10), 653-662. https://doi.org/10.5692/clinicalneurol.cn-001417
Sone J. [Neuronal Intranuclear Inclusion Disease (NIID)]. Rinsho Shinkeigaku. 2020 Oct 24;60(10):653-662. PubMed PMID: 32893241.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Neuronal intranuclear inclusion disease (NIID)]. A1 - Sone,Jun, Y1 - 2020/09/05/ PY - 2020/9/8/pubmed PY - 2020/11/24/medline PY - 2020/9/7/entrez KW - DWI KW - NOTCH2NLC KW - intranuclear inclusion KW - leukoencephalopathy KW - skin biopsy SP - 653 EP - 662 JF - Rinsho shinkeigaku = Clinical neurology JO - Rinsho Shinkeigaku VL - 60 IS - 10 N2 - Neuronal intranuclear inclusion disease (NIID) is a progressive neurodegenerative disease that had been diagnosed by autopsy until recently, but the number of cases has increased since skin biopsy was reported to be useful in 2011. In 2019, the genetical cause of NIID was identified as the extension of the GGC repeat sequence on the NOTCH2NLC gene, and genetic diagnosis became possible. In NIID, there are two groups: a group onset with cognitive dysfunction, and with leukoencephalopathy on head MRI and a high intensity signal at the corticomedurally junction on DWI, and a group with limb weakness. It is necessary to include NIID in the differential diagnosis of leukoencephalopathy and neuropathy, and it is necessary to combine skin biopsy and genetic testing to accurately diagnose of NIID and promote pathological elucidation. SN - 1882-0654 UR - https://www.unboundmedicine.com/medline/citation/32893241/[Neuronal_intranuclear_inclusion_disease__NIID_]_ L2 - https://dx.doi.org/10.5692/clinicalneurol.cn-001417 DB - PRIME DP - Unbound Medicine ER -