Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2023 Nov;50(11):1367-1372.
doi: 10.1111/1346-8138.16966. Epub 2023 Sep 18.

Skin biopsy and neuronal intranuclear inclusion disease

Xiao Ren  1   2 , Dandan Tan  1   2 , Jianwen Deng  3 , Zhaoxia Wang  3 , Daojun Hong  1   2
Affiliations
Review

Skin biopsy and neuronal intranuclear inclusion disease

Xiao Ren et al. J Dermatol. 2023 Nov.

Abstract

Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disease with variable clinical phenotypes. There is a considerable delay in the definite diagnosis, which primarily depends on postmortem brain pathological examination. Although CGG repeat expansion in the 5'-untranslated region of NOTCH2NLC has been identified as a disease-associated variant, the pathological diagnosis is still required in certain NIID cases. Intranuclear inclusions found in the skin tissue of patients with NIID dramatically increased its early detection rate. Skin biopsy, as a minimally invasive method, has become widely accepted as a routine examination to confirm the pathogenicity of the repeat expansion in patients with suspected NIID. In addition, the shared developmental origin of the skin and nerve system provided a new insight into the pathological changes observed in patients with NIID. In this review, we systematically discuss the role of skin biopsy for NIID diagnosis, the procedure of skin biopsy, and the pathophysiological mechanism of intranuclear inclusion in the skin.

Keywords: NIID; NOTCH2NLC; diagnosis; skin biopsy.

PubMed Disclaimer

References

REFERENCES

    1. Sone J, Mitsuhashi S, Fujita A, Mizuguchi T, Hamanaka K, Mori K, et al. Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease. Nat Genet. 2019;51:1215-1221.
    1. Ishiura H, Shibata S, Yoshimura J, Suzuki Y, Qu W, Doi K, et al. Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease. Nat Genet. 2019;51:1222-1232.
    1. Tian Y, Wang JL, Huang W, Zeng S, Jiao B, Liu Z, et al. Expansion of human-specific GGC repeat in neuronal intranuclear inclusion disease-related disorders. Am J Hum Genet. 2019;105:166-176.
    1. Deng J, Gu M, Miao Y, Yao S, Zhu M, Fang P, et al. Long-read sequencing identified repeat expansions in the 5'UTR of the NOTCH2NLC gene from Chinese patients with neuronal intranuclear inclusion disease. J Med Genet. 2019;56:758-764.
    1. Lu X, Hong D. Neuronal intranuclear inclusion disease: recognition and update. J Neural Transm (Vienna). 2021;128:295-303.

MeSH terms

Supplementary concepts

LinkOut - more resources