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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. Key words: Neuroaxonal dystrophies/DI/TH/GE; Infant; Editorial
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