Skip to main content

Advertisement

Log in

Methylenetetrahydrofolate reductase deficiency (homocystinuria type II) as a rare cause of rapidly progressive tetraspasticity and psychosis in a previously healthy adult

Journal of Neurology Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

References

  1. 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

    Article  Google Scholar 

  2. 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

    Article  CAS  PubMed  Google Scholar 

  3. 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

    Article  CAS  PubMed  Google Scholar 

  4. 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

    CAS  PubMed  Google Scholar 

  5. 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

    Article  CAS  PubMed  Google Scholar 

  6. Gilbody S, Lewis S, Lightfoot T (2007) Methylenetetrahydrofolate reductase (MTHFR) genetic polymorphisms and psychiatric disorders: a HuGE review. Am J Epidemiol 165:1–13

    Article  PubMed  Google Scholar 

  7. 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

    Article  CAS  PubMed  Google Scholar 

  8. Regland B, Johansson BV, Gottfries CG (1994) Homocysteinemia and schizophrenia as a case of methylation deficiency. J Neural Transm 98:143–152

    Article  CAS  Google Scholar 

  9. 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

    Article  CAS  PubMed  Google Scholar 

  10. 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

    Article  CAS  PubMed  Google Scholar 

  11. 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

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to T. Birnbaum MD.

Rights and permissions

Reprints and permissions

About this article

Cite this article

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

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00415-008-0043-3

Keywords

Navigation