D. Walk et al., INTERMITTENT ENCEPHALOPATHY, REVERSIBLE NERVE-CONDUCTION SLOWING, ANDMRI EVIDENCE OF CEREBRAL WHITE-MATTER DISEASE IN METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY, Neurology, 44(2), 1994, pp. 344-347
We describe a patient with methylenetetrahydrofolate reductase (MTHFR)
deficiency in whom clinical and electrophysiologic fluctuations paral
leled exacerbations of hyperhomocyst(e)inemia. MRI demonstrated abnorm
alities characteristic of a leukodystrophy.