One case of adult onset neuronal nuclear inclusion body disease
10.3969/j.issn.1002-0152.2024.08.007
- VernacularTitle:成人发病的神经元核内包涵体病1例
- Author:
Qinhao DUANMU
1
;
Jingjing DU
;
Jianli DU
;
Tao XU
;
Yueshan PIAO
;
Weidong ZHOU
Author Information
1. 应急总医院神经内科(北京 100028)
- Keywords:
Intranuclear inclusion body disease of neurons;
Imaging;
Skin tissue biopsy;
NOTCH2NLC gene;
Visual acuity
- From:
Chinese Journal of Nervous and Mental Diseases
2024;50(8):495-497
- CountryChina
- Language:Chinese
-
Abstract:
This article reports a case of adult neuronal intranuclear inclusion body disease with clinical manifestations of tremor,cognitive decline,and binocular visual impairment,which has not been clearly diagnosed and treated before.By reporting on this case,we aim to enhance physicians'understanding of adult onset of neuronuclear inclusion body disease,and to improve the diagnostic rate of neuronuclear inclusion body disease through imaging,skin biopsy,and NOTCH2NLC gene.