Abstract: Objective　To explore the clinical and PLA2G6 gene mutation characteristics of the infantile neuroaxonal dystrophy (INAD). Method　The clinical data of INAD diagnosed by gene detection were reviewed and analyzed. Results　A male child aged 1 year and 9 months had the main clinical manifestations of psychomotor retrogression, muscular dystonia, and positive pathological signs. Electromyography showed neurogenic damage. No abnormality was found in MRI at the age of one year. However, cerebellar atrophy was found by MRI at the age of 1 year and 9 months. Target sequence and second generation sequencing revealed that two heterozygous mutations, c.1933C>T and c.911T>C, in the exon region of PLA2G6 gene,  caused amino acid changes of p.R645X and p.L304P, respectively. The results of Sanger sequencing showed that 2 mutations were derived from mother and father and are compound heterozygous mutation. The c.1933C>T site has been reported to be a pathogenic mutation, while c.911T>C is first reported and has not been detected in the normal population. Conclusion The two generation sequencing technology can accurately detect PLA2G6 gene mutation and thus can be used as the first choice for diagnosis of INAD. This report has expanded the gene mutation spectrum of Chinese INAD patients.