Familial isolated vitamin E deficiency

Familial isolated vitamin e deficiency
Other names: Ataxia With Vitamin E Deficiency , AVED
Familial isolated vitamin E deficiency has an autosomal recessive pattern of inheritance.
Treatmenthigh-dose oral vitamin E supplementation
  • Segment 1- Individual demonstrates irregular head tremor at rest and dystonia of the neck, upper limb, and trunk that increases during reaching. There is subtle intention tremor on finger-to-nose test. Segment 2 - 18 months after Presentation, shows unsteady gait and dysdiadochokinesia. Generalized dystonia is unchanged. Segment 3- Treatment consisted of vitamin E and trihexyphenidyl (for 2.5 years). The individual's dysdiadochokinesia has improved significantly. He has residual upper limb dysmetria on the finger-to-nose test.

Familial isolated vitamin E deficiency or Ataxia with vitamin E deficiency (AVED) is a rare autosomal recessive neurodegenerative disease.[1][2][3][4] Symptoms are similar to those of Friedreich ataxia.

Signs and symptoms

The clinical presentation of AVED in an affected individual is as follows:[5]

  • Trembling when standing still
  • Unsteady gait
  • Partial loss of sensitivity to pain
  • Areflexia
  • Pes cavus

Cause

Familial isolated vitamin E deficiency is caused by mutations in the gene for a-tocopherol transfer protein.[6] Symptoms manifest late childhood to early teens. [7]

Diagnosis

In terms of the diagnosis of Ataxia with Vitamin E Deficiency done via clinical evaluation and a variety of tests (low levels of vitamin E with normal levels of lipoproteins).[5]

Treatment

Treatment includes vitamin E therapy, where lifelong high-dose oral vitamin E supplementation is prescribed to maintain plasma vitamin E concentrations and monitoring vitamin E levels in blood plasma.[7]

See also

References

  1. ↑ "Ataxia with vitamin E deficiency". www.orpha.net. Archived from the original on 2017-01-31. Retrieved 2017-01-19.
  2. ↑ Doerflinger N, Linder C, Ouahchi K, Gyapay G, Weissenbach J, Le Paslier D, Rigault P, Belal S, Ben Hamida C, Hentati F (May 1995). "Ataxia with vitamin E deficiency: refinement of genetic localization and analysis of linkage disequilibrium by using new markers in 14 families" (Free full text). American Journal of Human Genetics. 56 (5): 1116–24. ISSN 0002-9297. PMC 1801469. PMID 7726167.
  3. ↑ Reference, Genetics Home. "ataxia with vitamin E deficiency". Genetics Home Reference. Archived from the original on 2017-01-18. Retrieved 2017-01-19.
  4. ↑ Schuelke, Markus (1993-01-01). "Ataxia with Vitamin e Deficiency". In Pagon, Roberta A.; Adam, Margaret P.; Ardinger, Holly H.; Wallace, Stephanie E.; Amemiya, Anne; Bean, Lora J.H.; Bird, Thomas D.; Ledbetter, Nikki; Mefford, Heather C. (eds.). GeneReviews. Seattle (WA): University of Washington, Seattle. PMID 20301419. Archived from the original on 2022-10-17. Retrieved 2022-11-13.
  5. 1 2 "Ataxia with Vitamin E Deficiency - Symptoms, Causes, Treatment | NORD". rarediseases.org. Archived from the original on 19 January 2022. Retrieved 3 March 2023.
  6. ↑ Cellini E, Piacentini S, Nacmias B, Forleo P, Tedde A, Bagnoli S, Ciantelli M, Sorbi S (Dec 2002). "A family with spinocerebellar ataxia type 8 expansion and vitamin E deficiency ataxia". Archives of Neurology. 59 (12): 1952–53. doi:10.1001/archneur.59.12.1952. ISSN 0003-9942. PMID 12470185.
  7. 1 2 Schuelke, Markus (2016-10-13). "Ataxia with Vitamin E Deficiency". NCBI Bookshelf. PMID 20301419. Archived from the original on 2022-10-17. Retrieved 2022-11-13.
Classification


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