Neuronal intranuclear inclusion disease with peripheral neuropathy as the initial symptom： A pedigree analysis and literature review
10.19845/j.cnki.zfysjjbzz.2025.0124
- VernacularTitle:以周围神经病变为首发症状的神经元核内包涵体病一家系分析并文献复习
- Author:
Rong LI
1
;
Fengyu WANG
1
Author Information
1. Department of Neurology， People’s Hospital of Zhengzhou University， Henan Provincial People’s Hospital， Zhengzhou 450003， China
- Publication Type:Journal Article
- Keywords:
Neuronal intranuclear inclusion disease;
Skin biopsy;
Long-read sequencing;
NOTCH2NLC gene
- From:
Journal of Apoplexy and Nervous Diseases
2025;42(7):646-651
- CountryChina
- Language:Chinese
-
Abstract:
Objective To summarize the diagnosis and treatment of neuronal intranuclear inclusion disease （NIID） with peripheral neuropathy as the initial symptom in a Han Chinese family， and to improve the clinical awareness of this disease through a literature review. Methods A pedigree investigation was performed for a patient with NIID who was admitted to the outpatient service of Department of Neurology， Henan Provincial People’s Hospital， in January 2023， and the clinical and imaging features of the family members were summarized. Various techniques， such as second-generation whole-exome sequencing， third-generation whole-genome sequencing， and PCR capillary electrophoresis， were used for genetic analysis， and a family lineage map was plotted. A literature review was performed to summarize the features of cases with peripheral neuropathy as the initial symptom. Results There were 3 generations and 16 members in this family， among whom 5 had clinical manifestations， 8 underwent blood sampling， and 3 were found to have a GCC repeat expansion mutation in the 5' non-coding region of the NOTCH2NLC gene. The proband was aged 39 years， with the initial symptom of weakness in the extremities， and cranial MRI did not show the characteristic signal of NIID， while electromyography suggested multiple peripheral nerve injuries in the extremities. Genetic testing showed that the proband， his aunt， and his cousin all had a GGC repeat expansion mutation in the NOTCH2NLC gene， with a number of more than 60 repeats （154，144，and 148，respectively）. Conclusion In hereditary peripheral neuropathy， the possibility of NIID should be considered in case of negative results for common pathogenic genes. In addition， third-generation sequencing has a marked diagnostic value in repeat expansion mutation-related disorders.
