Severe 5,10-methylenetetrahydrofolate reductase deficiency: a rare, treatable cause of complicated hereditary spastic paraplegia.

A PernaM MasciulloA ModoniE CelliniE ParriniE RicciA M DonatiGabriella Silvestri

Published in: European journal of neurology (2018)

Severe MTHFR deficiency can be a rare, treatable cause of autosomal recessive complicated hereditary spastic paraplegia. Its screening should be part of the diagnostic flowchart for these disorders.

Keyphrases

cerebral palsy
early onset
botulinum toxin
upper limb
replacement therapy
intellectual disability
drug induced