Vitamin E Deficiency Ataxia

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Classification according to ICD-10
G11.1 Early onset of cerebellar ataxia
ICD-10 online (WHO version 2019)

The vitamin E deficiency ataxia is a rare congenital neurodegenerative disease with a combination of ataxia and vitamin E deficiency. Synonyms are: isolated familial vitamin E deficiency; AVED, English Familial Isolated Vitamin E Deficiency

It was first described in 1985 by neurologist A. E. Harding and colleagues.

distribution

The frequency is given as 1–9 / 1,000,000, inheritance is autosomal - recessive . AVED is the second most common hereditary cerebellar ataxia in North Africa.

root cause

The disease are mutations in TTPA - gene on chromosome 8 locus locus q12.3 basis that for the alpha-tocopherol transfer protein coded.

So far, various mutations have been identified, in the mild and late onset the mutation p.His101Gln , in the more severe and earlier onset the mutation c.744delA .

Clinical manifestations

Clinical criteria are:

diagnosis

The diagnosis is based on the findings of the clinical examination , the determination of the vitamin E level in the blood plasma with normal lipid and lipoprotein values. The diagnosis can be confirmed by human genetic testing .

A prenatal diagnosis is possible if the mutation is known.

Differential diagnosis

The following are to be distinguished:

therapy

The treatment consists of a high dose of vitamin E.

Prospect of healing

The prognosis is unfavorable even with therapy and usually leads to wheelchair users at a young age.

literature

  • AE Becker, W. Vargas, TS Pearson: Ataxia with Vitamin E Deficiency May Present with Cervical Dystonia. In: Tremor and other hyperkinetic movements. Vol. 6, 2016, p. 374, doi: 10.7916 / D8B85820 , PMID 27274910 , PMC 4884265 (free full text).
  • G. Zelante, F. Patti, L. Vinciguerra, C. Gellera, M. Zappia: Ataxia with vitamin E deficiency caused by a new compound heterozygous mutation. In: Neurological sciences: official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. Vol. 37, No. 9, September 2016, pp. 1571-1572, doi: 10.1007 / s10072-016-2561-6 , PMID 27021565 .
  • M. Ben Hamida, S. Belal, G. Sirugo, C. Ben Hamida, K. Panayides, P. Ionannou, J. Beckmann, JL Mandel, F. Hentati, M. Koenig: Friedreich's ataxia phenotype not linked to chromosome 9 and associated with selective autosomal recessive vitamin E deficiency in two inbred Tunisian families. In: Neurology . Vol. 43, No. 11, November 1993, pp. 2179-2183, PMID 8232925 .

Individual evidence

  1. ↑ a b c d e f Ataxia, Friedreich-like with vitamin E deficiency. In: Orphanet (Rare Disease Database).
  2. ^ AE Harding, S. Matthews, S. Jones, CJ Ellis, IW Booth, DP Muller: Spinocerebellar degeneration associated with a selective defect of vitamin E absorption. In: The New England Journal of Medicine . Volume 313, Number 1, July 1985, pp. 32-35, doi: 10.1056 / NEJM198507043130107 , PMID 4000224 .
  3. ^ Ataxia with isolated vitamin E deficiency.  In: Online Mendelian Inheritance in Man . (English)

Web links