Ataxia with isolated vitamin E deficiency: Neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families

C. Mariotti, C. Gellera, M. Rimondi, R. Mineri, G. Uziel, G. Zorzi, D. Pareyson, G. Piccolo, D. Gambi, S. Piacentini, F. Squitieri, R. Capra, B. Castelloti, S. Di Donato

Research output: Contribution to journalArticle

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 missence 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.

Original languageEnglish
Pages (from-to)130-137
Number of pages8
JournalNeurological Sciences
Volume25
Issue number3
Publication statusPublished - Jul 2004

Keywords

  • α-tocopherol transfer protein gene
  • Recessive ataxia
  • TTPA
  • Vitamin E
  • Vitamin E therapy

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology

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