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Re-evaluating archival specimens as a pathologic diagnostic resource for neuronal intranuclear inclusion disease
Yangye Lian1, Shaoping Zhong1, Jingzhen Liang1
1Department of Neurology, Zhongshan Hospital, Fudan University, Shanghai, China.
American Journal of Clinical Pathology
|May 24, 2026
Summary
Routine surgical specimens can diagnose Neuronal Intranuclear Inclusion Disease (NIID). Archival tissues from various organs show characteristic inclusions, aiding NIID diagnosis without new biopsies.
Area of Science:
- Neuropathology
- Neurodegenerative Diseases
- Genetics
Background:
- Neuronal Intranuclear Inclusion Disease (NIID) is a multisystem disorder.
- GGC repeat expansions in NOTCH2NLC gene cause NIID.
- Histopathologic confirmation is crucial for NIID diagnosis.
Purpose of the Study:
- To evaluate archival surgical specimens for NIID diagnosis.
- To determine if routine tissues can replace invasive biopsies for NIID confirmation.
Main Methods:
- Retrospective analysis of archival formalin-fixed, paraffin-embedded specimens.
- Hematoxylin-eosin staining and immunofluorescence for p62 and uN2CpolyG.
- Blinded histopathologic evaluation compared to control tissues.
Main Results:
- Characteristic intranuclear inclusions detected in all NIID specimens.
- Inclusions found in gastrointestinal and urogenital tissues, including biopsy samples.
- Inclusions preferentially in fibroblasts and smooth muscle cells, sparing epithelial cells.
Conclusions:
- Routine archival surgical specimens are a viable resource for NIID diagnosis.
- These tissues avoid the need for additional invasive biopsies.
- Consistent cellular distribution aids recognition in pathology practice.