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A comprehensive study of clinicopathological and genetic features of neuronal intranuclear inclusion disease.
Neurol Sci. 2023 Oct; 44(10):3545-3556.NS

Abstract

BACKGROUND

The discovery of skin intranuclear inclusions and GGC repeat expansion of NOTCH2NLC has greatly promoted the diagnosis of neuronal intranuclear inclusion disease (NIID). With highly heterogeneous clinical manifestations, NIID patients tend to be underdiagnosed at early stages.

METHODS

This study comprehensively studied clinical manifestations, magnetic resonance imaging (MRI), and peripheral nerve conduction in 24 NIID and 166 other neurodegenerative disease (ND) subjects. The nomogram was plotted using the "rms" package, and the t-distributed stochastic neighbor embedding algorithm was performed. Associations between skin intranuclear inclusions and NOTCH2NLC GGC repeats were further analyzed.

RESULTS

The clinical, MRI, and peripheral nerve conduction features seriously overlapped in NIID and ND patients; they were assigned variables according to their frequency and specificity in NIID patients. A nomogram that could distinguish NIID from ND was constructed according to the assigned variables and cutoff values of the above features. The occurrence of skin intranuclear inclusions and NOTCH2NLC GGC repeats ≥ 60 showed 100% consistency, and intranuclear inclusion frequency positively correlated with NOTCH2NLC GGC repeats. A hierarchical diagnostic flowchart for definite NIID was further established.

CONCLUSION

We provide a novel nomogram with the potential to realize early identification and update the diagnostic flowchart for definitive diagnosis. Moreover, this is the first study to define the association between skin pathology and NOTCH2NLC genetics in NIID.

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Publisher Full Text (DOI)

Authors+Show Affiliations

Liu M
Department of Neurology, The First Affiliated Hospital of Zhengzhou University, No. 1 Eastern Jianshe Road, Zhengzhou, 450052, Henan, China.
Gao Y
Department of Neurology, The First Affiliated Hospital of Zhengzhou University, No. 1 Eastern Jianshe Road, Zhengzhou, 450052, Henan, China. NHC Key Laboratory of Prevention and Treatment of Cerebrovascular Disease, Zhengzhou, Henan, China. Henan Key Laboratory of Cerebrovascular Diseases, Zhengzhou University, Zhengzhou, Henan, China. Institute of Neuroscience, Zhengzhou University, Zhengzhou, Henan, China.
Yuan Y
Department of Neurology, The First Affiliated Hospital of Zhengzhou University, No. 1 Eastern Jianshe Road, Zhengzhou, 450052, Henan, China. NHC Key Laboratory of Prevention and Treatment of Cerebrovascular Disease, Zhengzhou, Henan, China. Henan Key Laboratory of Cerebrovascular Diseases, Zhengzhou University, Zhengzhou, Henan, China. Institute of Neuroscience, Zhengzhou University, Zhengzhou, Henan, China.
Liu X
Department of Neurology, The First Affiliated Hospital of Zhengzhou University, No. 1 Eastern Jianshe Road, Zhengzhou, 450052, Henan, China. NHC Key Laboratory of Prevention and Treatment of Cerebrovascular Disease, Zhengzhou, Henan, China. Institute of Neuroscience, Zhengzhou University, Zhengzhou, Henan, China.
Wang Y
Department of Neurology, The First Affiliated Hospital of Zhengzhou University, No. 1 Eastern Jianshe Road, Zhengzhou, 450052, Henan, China. NHC Key Laboratory of Prevention and Treatment of Cerebrovascular Disease, Zhengzhou, Henan, China. Institute of Neuroscience, Zhengzhou University, Zhengzhou, Henan, China.
Li L
Department of Neurology, The First Affiliated Hospital of Zhengzhou University, No. 1 Eastern Jianshe Road, Zhengzhou, 450052, Henan, China. NHC Key Laboratory of Prevention and Treatment of Cerebrovascular Disease, Zhengzhou, Henan, China. Institute of Neuroscience, Zhengzhou University, Zhengzhou, Henan, China.
Zhang X
Department of Neurology, The First Affiliated Hospital of Zhengzhou University, No. 1 Eastern Jianshe Road, Zhengzhou, 450052, Henan, China.
Jiang C
Department of Neurology, The First Affiliated Hospital of Zhengzhou University, No. 1 Eastern Jianshe Road, Zhengzhou, 450052, Henan, China. Henan Key Laboratory of Cerebrovascular Diseases, Zhengzhou University, Zhengzhou, Henan, China.
Wang Q
Department of Neurology, The First Affiliated Hospital of Zhengzhou University, No. 1 Eastern Jianshe Road, Zhengzhou, 450052, Henan, China.
Wang Y
Department of Neurology, The First Affiliated Hospital of Zhengzhou University, No. 1 Eastern Jianshe Road, Zhengzhou, 450052, Henan, China. NHC Key Laboratory of Prevention and Treatment of Cerebrovascular Disease, Zhengzhou, Henan, China. Henan Key Laboratory of Cerebrovascular Diseases, Zhengzhou University, Zhengzhou, Henan, China. Institute of Neuroscience, Zhengzhou University, Zhengzhou, Henan, China.
Shi C
Department of Neurology, The First Affiliated Hospital of Zhengzhou University, No. 1 Eastern Jianshe Road, Zhengzhou, 450052, Henan, China. shichanghe@gmail.com. Institute of Neuroscience, Zhengzhou University, Zhengzhou, Henan, China. shichanghe@gmail.com.
Xu Y
Department of Neurology, The First Affiliated Hospital of Zhengzhou University, No. 1 Eastern Jianshe Road, Zhengzhou, 450052, Henan, China. xuyuming@zzu.edu.cn. NHC Key Laboratory of Prevention and Treatment of Cerebrovascular Disease, Zhengzhou, Henan, China. xuyuming@zzu.edu.cn. Henan Key Laboratory of Cerebrovascular Diseases, Zhengzhou University, Zhengzhou, Henan, China. xuyuming@zzu.edu.cn. Institute of Neuroscience, Zhengzhou University, Zhengzhou, Henan, China. xuyuming@zzu.edu.cn.
Yang J
Department of Neurology, The First Affiliated Hospital of Zhengzhou University, No. 1 Eastern Jianshe Road, Zhengzhou, 450052, Henan, China. yangjing9527@126.com. NHC Key Laboratory of Prevention and Treatment of Cerebrovascular Disease, Zhengzhou, Henan, China. yangjing9527@126.com. Henan Key Laboratory of Cerebrovascular Diseases, Zhengzhou University, Zhengzhou, Henan, China. yangjing9527@126.com.

MeSH

HumansNeurodegenerative DiseasesIntranuclear Inclusion BodiesMagnetic Resonance ImagingSkin

Pub Type(s)

Journal Article

Language

eng

PubMed ID

37184590

Citation

Liu, Minglei, et al. "A Comprehensive Study of Clinicopathological and Genetic Features of Neuronal Intranuclear Inclusion Disease." Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, vol. 44, no. 10, 2023, pp. 3545-3556.
Liu M, Gao Y, Yuan Y, et al. A comprehensive study of clinicopathological and genetic features of neuronal intranuclear inclusion disease. Neurol Sci. 2023;44(10):3545-3556.
Liu, M., Gao, Y., Yuan, Y., Liu, X., Wang, Y., Li, L., Zhang, X., Jiang, C., Wang, Q., Wang, Y., Shi, C., Xu, Y., & Yang, J. (2023). A comprehensive study of clinicopathological and genetic features of neuronal intranuclear inclusion disease. Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 44(10), 3545-3556. https://doi.org/10.1007/s10072-023-06845-2
Liu M, et al. A Comprehensive Study of Clinicopathological and Genetic Features of Neuronal Intranuclear Inclusion Disease. Neurol Sci. 2023;44(10):3545-3556. PubMed PMID: 37184590.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A comprehensive study of clinicopathological and genetic features of neuronal intranuclear inclusion disease. AU - Liu,Minglei, AU - Gao,Yuan, AU - Yuan,Yanpeng, AU - Liu,Xiaojing, AU - Wang,Yangyang, AU - Li,Lanjun, AU - Zhang,Xiaoyun, AU - Jiang,Chenyang, AU - Wang,Qingzhi, AU - Wang,Yanlin, AU - Shi,Changhe, AU - Xu,Yuming, AU - Yang,Jing, Y1 - 2023/05/15/ PY - 2023/02/03/received PY - 2023/05/07/accepted PY - 2023/9/12/medline PY - 2023/5/15/pubmed PY - 2023/5/15/entrez KW - Diagnostic flowchart KW - NOTCH2NLC KW - Neuronal intranuclear inclusion disease KW - Nomogram KW - Skin biopsy SP - 3545 EP - 3556 JF - Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology JO - Neurol Sci VL - 44 IS - 10 N2 - BACKGROUND: The discovery of skin intranuclear inclusions and GGC repeat expansion of NOTCH2NLC has greatly promoted the diagnosis of neuronal intranuclear inclusion disease (NIID). With highly heterogeneous clinical manifestations, NIID patients tend to be underdiagnosed at early stages. METHODS: This study comprehensively studied clinical manifestations, magnetic resonance imaging (MRI), and peripheral nerve conduction in 24 NIID and 166 other neurodegenerative disease (ND) subjects. The nomogram was plotted using the "rms" package, and the t-distributed stochastic neighbor embedding algorithm was performed. Associations between skin intranuclear inclusions and NOTCH2NLC GGC repeats were further analyzed. RESULTS: The clinical, MRI, and peripheral nerve conduction features seriously overlapped in NIID and ND patients; they were assigned variables according to their frequency and specificity in NIID patients. A nomogram that could distinguish NIID from ND was constructed according to the assigned variables and cutoff values of the above features. The occurrence of skin intranuclear inclusions and NOTCH2NLC GGC repeats ≥ 60 showed 100% consistency, and intranuclear inclusion frequency positively correlated with NOTCH2NLC GGC repeats. A hierarchical diagnostic flowchart for definite NIID was further established. CONCLUSION: We provide a novel nomogram with the potential to realize early identification and update the diagnostic flowchart for definitive diagnosis. Moreover, this is the first study to define the association between skin pathology and NOTCH2NLC genetics in NIID. SN - 1590-3478 UR - https://www.unboundmedicine.com/medline/citation/37184590/A_comprehensive_study_of_clinicopathological_and_genetic_features_of_neuronal_intranuclear_inclusion_disease_ DB - PRIME DP - Unbound Medicine ER -