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Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.

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Familial isolated vitamin E deficiency

Introduction

Overview

Overview

Familial Isolated Vitamin E Deficiency is a rare autosomal recessive[1] neurodegenerative disease. Symptoms are similar to those of Friedreich ataxia.

Cause

Cause

Familial Isolated Vitamin E Deficiency is caused by mutations in the gene for a-tocopherol transfer protein.[2]

Familial isolated vitamin E deficiency has an autosomal recessive pattern of inheritance.
External Links
References

References

  1. ↑ Doerflinger N, Linder C, Ouahchi K, Gyapay G, Weissenbach J, Le Paslier D, Rigault P, Belal S, Ben Hamida C, Hentati F (1995 May). “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. Unknown parameter |month= ignored (help); Check date values in: |date= (help)
  2. ↑ Cellini E, Piacentini S, Nacmias B, Forleo P, Tedde A, Bagnoli S, Ciantelli M, Sorbi S (2002). “A family with spinocerebellar ataxia type 8 expansion and vitamin E deficiency ataxia” (Free full text). Archives of neurology. 59 (12): 1952–53. doi:10.1001/archneur.59.12.1952. ISSN 0003-9942. PMID 12470185. Unknown parameter |month= ignored (help)