By the fact that up to now various genes (PANK2, PLA2G6, C19orf12, FA2H, ATP13A2, WDR45, COASY, FTL, CP, and DCAF17 [30]) have been shown to be associated with different types of NBIA and other neurodegenerative disorders, the aim of this study was to investigate disease-causing mutations using Next Generation Sequencing (NGS) method in two patients with neuromuscular and neurodegenerative disorders. Here, FA2H is linked to neurodegeneration with brain iron accumulation.