The cerebral folate deficiency (CFD) syndrome is defined as any neuropsychiatric condition with low CSF N5-methyltetrahydrofolate (MTHF), where FRα antibodies were identified in the majority of cases, while FOLR1 gene mutations or mitochondrial disorders remain rare alternative causes [12–15]. This evidence concerns the gene FOLR1 and neurodegenerative syndrome due to cerebral folate transport deficiency.