References
Ogier de Baulny H, Gerard M, Saudubray JM, Zittoun J (1998) Remethylation defects: guidelines for clinical diagnosis and treatment. Eur J Pediatr 157:77–83
Tonetti C, Ruivard M, Rieu V, Zittoun J, Giraudier S (2002) Severe methylenetetrahydrofolate reductase deficiency revealed by a pulmonary embolism in a young adult. Br J Haematol 119:397–399
Morel CF, Scott P, Christensen E, Rosenblatt DS, Rozen R (2005) Prenatal diagnosis for severe methylenetetrahydrofolate reductase deficiency by linkage analysis and enzymatic assay. Mol Genet Metab 85:115–120
Goyette P, Frosst P, Rosenblatt DS, Rima R (1995) Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency. Am J Hum Genet 56:1052–1059
Tonetti C, Amiel J, Munnich A, Zittoun J (2001) Impact of new mutations in the methylenetetrahydrofolate reductase gene assessed on biochemical phenotypes: A familial study. J Inherit Metab Dis 24:833–842
Gilbody S, Lewis S, Lightfoot T (2007) Methylenetetrahydrofolate reductase (MTHFR) genetic polymorphisms and psychiatric disorders: a HuGE review. Am J Epidemiol 165:1–13
Pasquier R, Lebert F, Petit H, Zittoun J, Marquet J (1994) Methylenetetrahydrofolate deficiency revealed by a neuropathy in a psychotic adult. J Neurol Neurosurg Psychiatr 57:765–766
Regland B, Johansson BV, Gottfries CG (1994) Homocysteinemia and schizophrenia as a case of methylation deficiency. J Neural Transm 98:143–152
Walk D, Kang SS, Horwitz A (1994) Intermittent encephalopathy, reversible nerve conduction slowing, and MRI evidence of cerebral white matter disease in methylenetetrahydrofolate reductase deficiency. Neurology 44:344–347
Haworth JC, Dilling LA, Surtees RAH, Seargeant LE, Lue-Shing H, Cooper BA, Rosenblatt DS (1993) Symptomatic and asymptomatic methylenetetrahydrofolate reductase deficiency in two adult brothers. Am J Med Genet 45:572–576
Tonetti C, Saudubray JM, Echenne B, Landrieu P, Giraudier S, Zittoun J (2003) Relations between molecular and biological abnormalities in 11 families from siblings affected with methylenetetrahydrofolate reductase deficiency. Eur J Pediatr 162:466–475
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Birnbaum, T., Blom, H.J., Prokisch, H. et al. Methylenetetrahydrofolate reductase deficiency (homocystinuria type II) as a rare cause of rapidly progressive tetraspasticity and psychosis in a previously healthy adult. J Neurol 255, 1845–1846 (2008). https://doi.org/10.1007/s00415-008-0043-3
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DOI: https://doi.org/10.1007/s00415-008-0043-3