Familial isolated vitamin E deficiency

Overview

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

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

Template:RareDiseases
aved at NIH/UW GeneTests

References

↑ 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)
↑ 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)

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[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)

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