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


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:...


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.


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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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