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Current advances in neuronal intranuclear inclusion disease.
Neurol Sci. 2023 Jun; 44(6):1881-1889.NS

Abstract

Neuronal intranuclear inclusion disease (NIID) is a rare but probably underdiagnosed neurodegenerative disorder due to pathogenic GGC expansions in the NOTCH2NLC gene. In this review, we summarize recent developments in the inheritance features, pathogenesis, and histopathologic and radiologic features of NIID that subvert the previous perceptions of NIID. GGC repeat sizes determine the age of onset and clinical phenotypes of NIID patients. Anticipation may be absent in NIID but paternal bias is observed in NIID pedigrees. Eosinophilic intranuclear inclusions in skin tissues once considered pathological hallmarks of NIID can also present in other GGC repeat diseases. Diffusion-weighted imaging (DWI) hyperintensity along the corticomedullary junction once considered the imaging hallmark of NIID can frequently be absent in muscle weakness and parkinsonism phenotype of NIID. Besides, DWI abnormalities can appear years after the onset of predominant symptoms and may even disappear completely with disease progression. Moreover, continuous reports of NOTCH2NLC GGC expansions in patients with other neurodegenerative diseases lead to the proposal of a new concept of NOTCH2NLC-related GGC repeat expansion disorders (NRED). However, by reviewing the previous literature, we point out the limitations of these studies and provide evidence that these patients are actually suffering from neurodegenerative phenotypes of NIID.

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Authors+Show Affiliations

Bao L
Department of Neurology, the Affiliated Hospital of Xuzhou Medical University, Xuzhou, 221000, Jiangsu, China. Department of Neurology, Xuzhou Medical University, Xuzhou, 221000, Jiangsu, China.
Zuo D
Department of Neurology, the Affiliated Hospital of Xuzhou Medical University, Xuzhou, 221000, Jiangsu, China.
Li Q
Department of Neurology, the Affiliated Hospital of Xuzhou Medical University, Xuzhou, 221000, Jiangsu, China.
Chen H
Department of Neurology, the Affiliated Hospital of Xuzhou Medical University, Xuzhou, 221000, Jiangsu, China. haochen-2008@hotmail.com.
Cui G
Department of Neurology, the Affiliated Hospital of Xuzhou Medical University, Xuzhou, 221000, Jiangsu, China. cuiguiyun56@gmail.com.

MeSH

HumansIntranuclear Inclusion BodiesNeurodegenerative DiseasesDiffusion Magnetic Resonance ImagingPedigree

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

36795299

Citation

Bao, Lei, et al. "Current Advances in Neuronal Intranuclear Inclusion Disease." Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, vol. 44, no. 6, 2023, pp. 1881-1889.
Bao L, Zuo D, Li Q, et al. Current advances in neuronal intranuclear inclusion disease. Neurol Sci. 2023;44(6):1881-1889.
Bao, L., Zuo, D., Li, Q., Chen, H., & Cui, G. (2023). Current advances in neuronal intranuclear inclusion disease. Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 44(6), 1881-1889. https://doi.org/10.1007/s10072-023-06677-0
Bao L, et al. Current Advances in Neuronal Intranuclear Inclusion Disease. Neurol Sci. 2023;44(6):1881-1889. PubMed PMID: 36795299.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Current advances in neuronal intranuclear inclusion disease. AU - Bao,Lei, AU - Zuo,Dandan, AU - Li,Qingjie, AU - Chen,Hao, AU - Cui,Guiyun, Y1 - 2023/02/16/ PY - 2022/12/07/received PY - 2023/02/10/accepted PY - 2023/5/15/medline PY - 2023/2/17/pubmed PY - 2023/2/16/entrez KW - Histopathology KW - Inheritance KW - NIID KW - NRED KW - Pathogenesis KW - Radiology SP - 1881 EP - 1889 JF - Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology JO - Neurol Sci VL - 44 IS - 6 N2 - Neuronal intranuclear inclusion disease (NIID) is a rare but probably underdiagnosed neurodegenerative disorder due to pathogenic GGC expansions in the NOTCH2NLC gene. In this review, we summarize recent developments in the inheritance features, pathogenesis, and histopathologic and radiologic features of NIID that subvert the previous perceptions of NIID. GGC repeat sizes determine the age of onset and clinical phenotypes of NIID patients. Anticipation may be absent in NIID but paternal bias is observed in NIID pedigrees. Eosinophilic intranuclear inclusions in skin tissues once considered pathological hallmarks of NIID can also present in other GGC repeat diseases. Diffusion-weighted imaging (DWI) hyperintensity along the corticomedullary junction once considered the imaging hallmark of NIID can frequently be absent in muscle weakness and parkinsonism phenotype of NIID. Besides, DWI abnormalities can appear years after the onset of predominant symptoms and may even disappear completely with disease progression. Moreover, continuous reports of NOTCH2NLC GGC expansions in patients with other neurodegenerative diseases lead to the proposal of a new concept of NOTCH2NLC-related GGC repeat expansion disorders (NRED). However, by reviewing the previous literature, we point out the limitations of these studies and provide evidence that these patients are actually suffering from neurodegenerative phenotypes of NIID. SN - 1590-3478 UR - https://www.unboundmedicine.com/medline/citation/36795299/Current_advances_in_neuronal_intranuclear_inclusion_disease_ DB - PRIME DP - Unbound Medicine ER -