The second one is a reported mutation c.1039G > A (p.Gly347Arg) in PLA2G6 gene in one patient of age 3 years old; he was pre-diagnosed with symptoms of classical infantile neuroaxonal dystrophy [INAD] such as psychomotor regression, ataxia, visual loss, abnormality of movement, and hypotonia, and his MRI showed cerebellar atrophy. The gene discussed is PLA2G6; the disease is Ataxia.