A case of MTHFR deficiency characterized by adult-onset spastic paraplegia

Learning points for clinicians5,10-Methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare autosomal recessive disorder with a wide range of mutations and highly variable clinical manifestations.Here, we report a case of c.416C>T homozygous mutation presenting as adult-onset spastic paraplegia.Our study enriches pathogenic variants of MTHFR deficiency and highlights the clinical heterogeneity of it.