A large set of neurometabolic investigations including renal and liver screen, α-foetoprotein, creatine kinase, transferrin isolelectophoresis, organic acids, very long chain fatty acids, white cell enzymes, quantitative amino acids, and genetic tests including array CGH, mitochondrial mutations, POLG, Friedreichs ataxia, and PLA2G6 were normal. Here, POLG is linked to Friedreich ataxia.