Application of Oral Mucosal Epithelial Cells in Noninvasive Pathological Diagnosis of Neuronal Intranuclear Inclusion Disease

We employed a novel method for collecting oral mucosal epithelial cells, an anagar-paraffin double-embedding technique for cell fixation in cytopathological processing. OMEC biopsy demonstrated a high diagnostic efficacy for NIID: H&E staining revealed inclusions in 60% (12/20) of patients, TEM confirmed them in 40% (8/20) of cases and immunofluorescence detected p62-positive aggregates in 9/20 (45%) and uN2CpolyG in 8/20 (40%) of cases, respectively. OMEC biopsy is a simple, noninvasive technique for detecting intranuclear inclusions in NIID, avoiding the need for invasive surgical procedures such as skin or labial gland biopsies.

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Publication Details

Journal
Neuropathology and Applied Neurobiology
Published
2025-06-30
DOI
https://doi.org/10.1111/nan.70023
Primary Topic
Genetic Neurodegenerative Diseases
Type
article
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article

Application of Oral Mucosal Epithelial Cells in Noninvasive Pathological Diagnosis of Neuronal Intranuclear Inclusion Disease

Ying Ji, Zichang Yin, Ming Shi, Hao Chen et al.
Neuropathology and Applied Neurobiology
Genetic Neurodegenerative Diseases
article

Application of Oral Mucosal Epithelial Cells in Noninvasive Pathological Diagnosis of Neuronal Intranuclear Inclusion Disease

Ying Ji, Zichang Yin, Ming Shi, Hao Chen, Jin Tian, Xianhong Jia, Yu Kong, Wenjing Song, Xiaowen Li, Lei Bao, Jingwen Yang, Xingxing Yuan, Qingqing Ji, Yuwen Li, Xiuhui Sun
article en

Abstract

We employed a novel method for collecting oral mucosal epithelial cells, an anagar-paraffin double-embedding technique for cell fixation in cytopathological processing. OMEC biopsy demonstrated a high diagnostic efficacy for NIID: H&E staining revealed inclusions in 60% (12/20) of patients, TEM confirmed them in 40% (8/20) of cases and immunofluorescence detected p62-positive aggregates in 9/20 (45%) and uN2CpolyG in 8/20 (40%) of cases, respectively. OMEC biopsy is a simple, noninvasive technique for detecting intranuclear inclusions in NIID, avoiding the need for invasive surgical procedures such as skin or labial gland biopsies.

Neuropathology and Applied NeurobiologyVol. 51(4)
Xuzhou Medical College (CN), Kingmed Diagnostics (CN)
Reduced inequalities
Openalex Percentile: Top 84%
Genetic Neurodegenerative Diseases
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Application of Oral Mucosal Epithelial Cells in Noninvasive Pathological Diagnosis of Neuronal Intranuclear Inclusion Disease — Ying Ji, Zichang Yin, et al. · Neuropathology and Applied Neurobiology (2025) | TGRS Research Map | TGRS