The clinical characteristics and molecular genetics of infantile neuroaxonal dystrophy: The current research progress

VernacularTitle:婴儿神经轴索营养不良临床特点及分子遗传学的研究进展
Author: Shimeng CHEN ; Juan XIONG ; Xiaolu DENG ; Nan PANG ; Xiaole WANG ; Wen ZHANG ; Fei YIN
Keywords: Neuroaxonal dystrophies/DI/TH/GE; Infant; Editorial
From: Journal of Chinese Physician 2017;19(8):1121-1124
CountryChina
Language:Chinese
Abstract: Infantile neuroaxonal dystrophy (INAD) is a rare autosome-recessive disease characterized by progressive motor and cognitive regression.The PLA2G6 gene is its causative gene,which encodes calcium-independent phospholipase A2 enzyme (iPLA2-VIA).The diagnosis of INAD is difficult because of its clinical heterogeneity,and the rate of misdiagnosis is high.The purpose of this study is to describe the clinical characteristics,molecular genetics,treatment and prognosis of INAD to improve the acknowledgement of INAD in medical workers and to help make an early diagnosis of INAD.