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Journal of Neurology

, Volume 256, Issue 7, pp 1180–1181 | Cite as

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

  • Satoshi KonoEmail author
  • Akiko Otsuji
  • Hiroaki Hattori
  • Kentaro Shirakawa
  • Hitoshi Suzuki
  • Hiroaki Miyajima
Letter to the Editors

Sirs,

Ataxia with isolated vitamin E deficiency (AVED) is an autosomal-recessive spinocerebellar degeneration caused by a mutation of the α-tocopherol transfer protein gene (αTTP) [3, 8]. This report presents a case of juvenile spinocerebellar ataxia caused by mutations in the phospholipid transfer protein (PLTP) gene as well as the αTTP gene. This is the first report to indentify a mutation in the PLTP gene associated with vitamin E-mediated spinocerebellar ataxia.

The proband was a 54-year-old female who had developed resting tremors in her right hand and ataxia at 14 years of age. At around 30 years of age, her bilateral visual acuity was decreased by retinitis pigmentosa. Her parents were second-degree cousins. On neurological examination she exhibited ataxia, dysarthria, hyporeflexia, decreased proprioceptive and vibratory sensations, and resting tremors of the extremities. The serum vitamin E concentration was observed to be about half normal level, 4.2 mg/l (normal:...

Keywords

Retinitis Pigmentosa Serum Vitamin Spinocerebellar Ataxia H154R Mutation Brain Capillary Endothelial Cell 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

References

  1. 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 19:296–297PubMedGoogle Scholar
  2. 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 74:1374–1383PubMedCrossRefGoogle Scholar
  3. 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 333:1313–1318PubMedCrossRefGoogle Scholar
  4. 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 40:1123–1130PubMedGoogle Scholar
  5. 5.
    Huuskonen J, Olkkonen VM, Jauhiainen M, Ehnholm C (2001) The impact of phospholipid transfer protein (PLTP) on HDL metabolism. Atherosclerosis 155:269–281PubMedCrossRefGoogle Scholar
  6. 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 280:18336–18340PubMedCrossRefGoogle Scholar
  7. 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 46:1357–1364PubMedGoogle Scholar
  8. 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 9:141–145PubMedCrossRefGoogle Scholar
  9. 9.
    Rigotti A (2007) Absorption, transport, and tissue delivery of vitamin E. Mol Aspects Med 28:423–436PubMedCrossRefGoogle Scholar
  10. 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 335:1770–1771PubMedCrossRefGoogle Scholar
  11. 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 41:826–832PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag 2009

Authors and Affiliations

  • Satoshi Kono
    • 1
    Email author
  • Akiko Otsuji
    • 1
  • Hiroaki Hattori
    • 2
  • Kentaro Shirakawa
    • 1
  • Hitoshi Suzuki
    • 1
  • Hiroaki Miyajima
    • 1
  1. 1.First Department of MedicineHamamatsu University School of MedicineHamamatsuJapan
  2. 2.Department of Advanced Medical Technology and DevelopmentBML, IncKawagoeJapan

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