Recessive spastic paraparesis associated with complex I deficiency due to MTHFR mutations.

摘要

5,10-MethylenetetrahydrofoIate reductase {MTHFR, EC.1.5.1.20) catalyses the reduction of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate. This serves as a methyl donor for homocysteine re-meth-ylation to methionine, which is essential for DNA and protein methylation, neurotrans-mitter and phospholipid synthesis. Homo-cystinuria due to MTHFR deficiency usually presents in childhood with developmental delay, psychiatric features, and an encepha-lopathy with low or normal plasma methionine1. Onset in late childhood or early adult life is rare1. Here we describe MTHFR deficiency presenting in two adult siblings with slowly progressive spastic paraparesis.