Adult sporadic neuronal intranuclear inclusion disease with tremor as the initial presentation:A case report and literature review

VernacularTitle:以震颤起病的成年散发型神经元核内包涵体病1例并文献复习
Author: Xin PAN ¹ ; Jingjing YANG ; Jinhui SONG
Author Information

1. 湖北医药学院附属襄阳市第一人民医院神经内科,湖北襄阳 441000
Keywords: Neuronal intranuclear inclusion disease; Diffusion-weighted imaging; Skin biopsy; Genetic testing; Tremor
From: Journal of Apoplexy and Nervous Diseases 2024;41(9):835-838
CountryChina
Language:Chinese
Abstract: Neuronal intranuclear inclusion disease(NIID)is a slowly progressive rare neurodegenerative disease with the pathological feature of the appearance of eosinophilic clear intranuclear inclusions in the nervous system and vis-ceral organs,and it has complex and diverse clinical manifestations and lacks specificity,which often leads to misdiagno-sis or missed diagnosis.In recent years,skin biopsy and genetic testing have provided a basis for the diagnosis of NIID.This article reports a patient with NIID who had upper limb tremor as the main manifestation and was finally diagnosed by genetic testing,analyzes the clinical features of this patient,and summarizes the latest research advances in NIID through literature review,so as to improve the understanding of this rare disease among clinicians.