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      Adult‐onset neuronal nuclear inclusion disease presenting with mental and behavioral disorders: A case report and literature review

      case-report

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          Abstract

          Neuronal nuclear inclusion disease (NIID) is a rare and chronic progressive neurological degenerative disease. We presented a 68‐year‐old man with paroxysmal orientation disorder 1 year prior, mental and behavioral disorders for 2 days, and confirmed the diagnosis of NIID with skin biopsy. We suggest that patients with atypical clinical symptoms showed characteristic high signal in the dermatomedullary junction on DWI; NIID should be considered.

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          Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease

          Jun Sone, Satomi Mitsuhashi, Atsushi Fujita … (2019)
          Article 0 comments Cited 167 times – based on 0 reviews     Review now
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            Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease

            Hiroyuki Ishiura, Shota Shibata, Jun Yoshimura … (2019)
            Noncoding repeat expansions cause various neuromuscular diseases, including myotonic dystrophies, fragile X tremor/ataxia syndrome, some spinocerebellar ataxias, amyotrophic lateral sclerosis and benign adult familial myoclonic epilepsies. Inspired by the striking similarities in the clinical and neuroimaging findings between neuronal intranuclear inclusion disease (NIID) and fragile X tremor/ataxia syndrome caused by noncoding CGG repeat expansions in FMR1, we directly searched for repeat expansion mutations and identified noncoding CGG repeat expansions in NBPF19 (NOTCH2NLC) as the causative mutations for NIID. Further prompted by the similarities in the clinical and neuroimaging findings with NIID, we identified similar noncoding CGG repeat expansions in two other diseases: oculopharyngeal myopathy with leukoencephalopathy and oculopharyngodistal myopathy, in LOC642361/NUTM2B-AS1 and LRP12, respectively. These findings expand our knowledge of the clinical spectra of diseases caused by expansions of the same repeat motif, and further highlight how directly searching for expanded repeats can help identify mutations underlying diseases.
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              Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders

              Yun Tian, Jun-Ling Wang, Wen Huang … (2019)
              Neuronal intranuclear inclusion disease (NIID) is a slowly progressing neurodegenerative disease characterized by eosinophilic intranuclear inclusions in the nervous system and multiple visceral organs. The clinical manifestation of NIID varies widely, and both familial and sporadic cases have been reported. Here we have performed genetic linkage analysis and mapped the disease locus to 1p13.3-q23.1; however, whole-exome sequencing revealed no potential disease-causing mutations. We then performed long-read genome sequencing and identified a large GGC repeat expansion within human-specific NOTCH2NLC. Expanded GGC repeats as the cause of NIID was further confirmed in an additional three NIID-affected families as well as five sporadic NIID-affected case subjects. Moreover, given the clinical heterogeneity of NIID, we examined the size of the GGC repeat among 456 families with a variety of neurological conditions with the known pathogenic genes excluded. Surprisingly, GGC repeat expansion was observed in two Alzheimer disease (AD)-affected families and three parkinsonism-affected families, implicating that the GGC repeat expansions in NOTCH2NLC could also contribute to the pathogenesis of both AD and PD. Therefore, we suggest defining a term NIID-related disorders (NIIDRD), which will include NIID and other related neurodegenerative diseases caused by the expanded GGC repeat within human-specific NOTCH2NLC.
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                Author and article information

                Contributors
                Xiao‐Li Liu: liuxiaoli1010@126.com
                Journal
                Journal ID (nlm-ta): Aging Med (Milton)
                Journal ID (iso-abbrev): Aging Med (Milton)
                Journal ID (doi): 10.1002/(ISSN)2475-0360
                Journal ID (publisher-id): AGM2
                Title: Aging Medicine
                Publisher: John Wiley and Sons Inc. (Hoboken )
                ISSN (Electronic): 2475-0360
                Publication date (Electronic): 20 December 2022
                Publication date Collection: December 2022
                Volume: 5
                Issue: 4 ( doiID: 10.1002/agm2.v5.4 )
                Pages: 297-302
                Affiliations
                [ 1 ] Department of Neurology Zhejiang Hospital Hangzhou China
                [ 2 ] Department of Pathology Zhejiang Hospital Hangzhou China
                Author notes
                [*] [* ] Correspondence

                Xiao‐Li Liu, Department of Neurology, Zhejiang Hospital, Hangzhou, Zhejiang 310013, China.

                Email: liuxiaoli1010@ 123456126.com

                Author information
                https://orcid.org/0000-0003-0005-0086
                Article
                Publisher ID: AGM212237 Other ID: AGM-2022-0076
                DOI: 10.1002/agm2.12237
                PMC ID: 9805289
                PubMed ID: 36606264
                SO-VID: acb17beb-d7b9-424a-bb55-f60f0de2d675
                Copyright © © 2022 The Authors. Aging Medicine published by Beijing Hospital and John Wiley & Sons Australia, Ltd.
                License:

                This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.

                History
                Date received : 21 November 2022
                Date accepted : 04 December 2022
                Page count
                Figures: 4, Tables: 0, Pages: 6, Words: 3773
                Funding
                Funded by: Department of Health of Zhejiang Province , doi 10.13039/501100008856;
                Award ID: 2021KY420
                Categories
                Subject: Case Report
                Subject: Case Report
                Custom metadata
                source-schema-version-number 2.0
                cover-date December 2022
                details-of-publishers-convertor Converter:WILEY_ML3GV2_TO_JATSPMC version:6.2.3 mode:remove_FC converted:31.12.2022

                Keywords: genetic analysis,mental and behavioral disorders,neuronal nuclear inclusion disease,p62 staining,skin biopsy
                Data availability:
                Keywords: genetic analysis, mental and behavioral disorders, neuronal nuclear inclusion disease, p62 staining, skin biopsy

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