References
Aparicio JM, Belanger-Quintana A, Suàrez L, Mayo D, Benìtez J, Dìaz M, Escobar H (2001) Ataxia with isolated Vitamin E deficiency: case report and review of the Literature. J Pediatr Gastroenterol Nutr 33:206–210
Ben Hamida C, Doerflinger N, Belal S, Linder C, Reutenauer L, Dib C, Gyapay G, Vignal A, Le Paslier D, Cohen D, Pandolfo M, Mokini V, Novelli G, Hentati F, Ben Hamida M, Mandel J-L, Kœniget M (1993) Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping. Nat Genet 5:195–200
Cavalier L, Ouahchi K, Kayden HJ, Di Donato S, Reutenauer L, Mandel JL, Koenig M (1998) Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families. Am J Hum Genet 62:301–310
Gabsi S, Gouider Khouja N, Belai S, Fki M, Kefi M, Turki I, Ben Hamida M, Kayden H, Mebazaa R, Hentati F (2001) Effect of vitamin E supplementation in patients with ataxia with vitamin E deficiency. Eur J Neurol 8:477–481
Gordon N (2001) Hereditary vitamin E deficiency. Dev Med Child Neurol 43:133–135
Mariotti C, Gellera C, Rimoldi M, Minieri R, Uziel G, Zorzi G, Pareyson D, Piccolo G, Gambi D, Piacentini S, Squitieri F, Capra R, Castelletti B, Di Donato S (2004) Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families. Neurol Sci 25:130–137
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Doria-Lamba, L., De Grandis, E., Cristiani, E. et al. Efficacious vitamin E treatment in a child with ataxia with isolated vitamin E deficiency. Eur J Pediatr 165, 494–495 (2006). https://doi.org/10.1007/s00431-006-0085-4
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DOI: https://doi.org/10.1007/s00431-006-0085-4