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Ataxia with vitamin E deficiency with a mutation in a phospholipid transfer protein gene

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References

  1. Desrumaux C, Risold PY, Schroeder H, Deckert V, Masson D, Athias A, Laplanche H, Le Guern N, Blache D, Jiang XC, Tall AR, Desor D, Lagrost L (2005) Phospholipid transfer protein (PLTP) deficiency reduces brain vitamin E content and increases anxiety in mice. FASEB J 19:296–297

    PubMed  CAS  Google Scholar 

  2. Goti D, Hammer A, Galla HJ, Malle E, Sattler W (2000) Uptake of lipoprotein-associated alpha-tocopherol by primary porcine brain capillary endothelial cells. J Neurochem 74:1374–1383

    Article  PubMed  CAS  Google Scholar 

  3. Gotoda T, Arita M, Arai H, Inoue K, Yokota T, Fukuo Y, Yazaki Y, Yamada N (1995) Adult-onset spinocerebellar dysfunction caused by a mutation in the gene for the alpha-tocopherol-transfer protein. N Engl J Med 333:1313–1318

    Article  PubMed  CAS  Google Scholar 

  4. Huuskonen J, Wohlfahrt G, Jauhiainen M, Ehnholm C, Teleman O, Olkkonen VM (1999) Structure and phospholipid transfer activity of human PLTP: analysis by molecular modeling and site-directed mutagenesis. J Lipid Res 40:1123–1130

    PubMed  CAS  Google Scholar 

  5. Huuskonen J, Olkkonen VM, Jauhiainen M, Ehnholm C (2001) The impact of phospholipid transfer protein (PLTP) on HDL metabolism. Atherosclerosis 155:269–281

    Article  PubMed  CAS  Google Scholar 

  6. Jiang XC, Li Z, Liu R, Yang XP, Pan M, Lagrost L, Fisher EA, Williams KJ (2005) Phospholipid transfer protein deficiency impairs apolipoprotein-B secretion from hepatocytes by stimulating a proteolytic pathway through a relative deficiency of vitamin E and an increase in intracellular oxidants. J Biol Chem 280:18336–18340

    Article  PubMed  CAS  Google Scholar 

  7. Oka T, Kujiraoka T, Ito M, Nagano M, Ishihara M, Iwasaki T, Egashira T, Miller NE, Hattori H (2000) Measurement of human plasma phospholipid transfer protein by sandwich ELISA. Clin Chem 46:1357–1364

    PubMed  CAS  Google Scholar 

  8. Ouahchi K, Arita M, Kayden H, Hentati F, Ben Hamida M, Sokol R, Arai H, Inoue K, Mandel JL, Koenig M (1995) Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein. Nat Genet 9:141–145

    Article  PubMed  CAS  Google Scholar 

  9. Rigotti A (2007) Absorption, transport, and tissue delivery of vitamin E. Mol Aspects Med 28:423–436

    Article  PubMed  CAS  Google Scholar 

  10. Yokota T, Shiojiri T, Gotoda T, Arai H (1996) Retinitis pigmentosa and ataxia caused by a mutation in the gene for the alpha-tocopherol-transfer protein. N Engl J Med 335:1770–1771

    Article  PubMed  CAS  Google Scholar 

  11. Yokota T, Shiojiri T, Gotoda T, Arita M, Arai H, Ohga T, Kanda T, Suzuki J, Imai T, Matsumoto H, Harino S, Kiyosawa M, Mizusawa H, Inoue K (1997) Friedreich-like ataxia with retinitis pigmentosa caused by the His101Gln mutation of the alpha-tocopherol transfer protein gene. Ann Neurol 41:826–832

    Article  PubMed  CAS  Google Scholar 

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Correspondence to Satoshi Kono.

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Kono, S., Otsuji, A., Hattori, H. et al. Ataxia with vitamin E deficiency with a mutation in a phospholipid transfer protein gene. J Neurol 256, 1180–1181 (2009). https://doi.org/10.1007/s00415-009-5075-9

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  • DOI: https://doi.org/10.1007/s00415-009-5075-9

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