Neurological Sciences

, Volume 25, Issue 3, pp 130–137

Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPAgene in Italian families

  • C. Mariotti
  • C. Gellera
  • M. Rimoldi
  • R. Mineri
  • G. Uziel
  • G. Zorzi
  • D. Pareyson
  • G. Piccolo
  • D. Gambi
  • S. Piacentini
  • F. Squitieri
  • R. Capra
  • B. Castellotti
  • S. Di Donato
ORIGINAL

Abstract.

Ataxia with vitamin E deficiency (AVED) is a rare autosomal recessive neurodegenerative disorder due to mutations in the alpha-tocopherol transfer protein (TTPA) gene on chromosome 8q13. AVED patients have progressive spinocerebellar symptoms and markedly reduced plasma levels of vitamin E. We studied neurological phenotype at diagnosis, and long-term effect of vitamin E supplementation in 16 patients from 12 Italian families. The most common mutations were the 744delA and 513insTT. Two novel TTPA mutations were identified: a severe truncating mutation (219insAT) in a homozygous patient, and a Gly246Arg missense mutation (G246R) in a compound heterozygous patient. The missense mutation was associated with a mild and slowly progressive form of the disease. Vitamin E supplementation therapy allowed a stabilization of the neurological conditions in most of the patients. However, development of spasticity and retinitis pigmentosa was noted in a few patients during therapy. Prompt genetic characterization of AVED patients may allow an effective early treatment and an adequate genetic counseling.

Key words

α-Tocopherol transfer protein gene TTPA Recessive ataxia Vitamin E Vitamin E therapy 

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Copyright information

© Springer-Verlag Italia 2004

Authors and Affiliations

  • C. Mariotti
    • 1
  • C. Gellera
    • 1
  • M. Rimoldi
    • 1
  • R. Mineri
    • 1
  • G. Uziel
    • 2
  • G. Zorzi
    • 2
  • D. Pareyson
    • 1
  • G. Piccolo
    • 3
  • D. Gambi
    • 4
  • S. Piacentini
    • 5
  • F. Squitieri
    • 6
  • R. Capra
    • 7
  • B. Castellotti
    • 1
  • S. Di Donato
    • 1
  1. 1.Division of Biochemistry and GeneticsC. Besta National Neurological InstituteMilanItaly
  2. 2.Department of NeuropediatricsC. Besta National Neurological InstituteMilanItaly
  3. 3.C. Mondino Neurological Institute, IRCCSPaviaItaly
  4. 4.Center for Neuromuscular DiseasesG. D’Annunzio UniversityChietiItaly
  5. 5.Department of Neurological and Psychiatric SciencesUniversity of FlorenceFlorenceItaly
  6. 6.Neurogenetics UnitIRCCS INM NeuromedPozzilli (IS)Italy
  7. 7.Multiple Sclerosis CenterOspedali CiviliBresciaItaly

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