title: Ataxia with vitamin E deficiency and severe dystonia: report of a case.
abstract: Mutation of the gene for alpha-tocopherol transfer protein causes ataxia with isolated vitamin E deficiency, a disorder usually stabilized or improved after vitamin E supplementation. Dystonia has rarely been described in ataxia with isolated vitamin E deficiency (AVED) patients. We present the case of a young boy with AVED, whose neurological and extra-neurological cardinal symptoms of the disease improved after vitamin E supplementation but who progressively developed generalized dystonia.
authors.affiliation: Service de Neuropédiatrie, Hôpital Saint Eloi, 80 Avenue Augustin Fliche, 34295 Montpellier Cedex 5, France. a_roubertie@hotmail.com
authors.forename: Agathe
authors.initials: A
authors.lastname: Roubertie
authors.forename: Brigitte
authors.initials: B
authors.lastname: Biolsi
authors.forename: François
authors.initials: F
authors.lastname: Rivier
authors.forename: Véronique
authors.initials: V
authors.lastname: Humbertclaude
authors.forename: Renée
authors.initials: R
authors.lastname: Cheminal
authors.forename: Bernard
authors.initials: B
authors.lastname: Echenne
mesh_terms: D000293:Adolescent; D001259:Ataxia / Q000209:etiology / Q000235:genetics; D002352:Carrier Proteins / Q000235:genetics; D002648:Child; D004421:Dystonia / Q000209:etiology*; D005073:Evoked Potentials, Somatosensory / Q000502:physiology; D006801:Humans; D008297:Male; D009154:Mutation; D011355:Prodrugs / Q000627:therapeutic use; D024505:Tocopherols; D014810:Vitamin E / Q000097:blood; D014811:Vitamin E Deficiency / Q000150:complications* / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology; D024502:alpha-Tocopherol / Q000031:analogs & derivatives* / Q000627:therapeutic use
chemical_list: D002352:Carrier Proteins; D011355:Prodrugs; C017763:alpha-tocopherol transfer protein; D014810:Vitamin E; D024502:alpha-Tocopherol; D024505:Tocopherols