title: Ataxia with vitamin E deficiency associated with deafness.
abstract: Ataxia with vitamin E deficiency (AVED) is a rare autosomal recessive disorder, usually with a phenotype resembling Friedreich ataxia, caused by selective impairment of gastrointestinal vitamin E absorption. Vitamin E supplementation improves symptoms and prevents disease progress. In North Africa and Southern Europe, AVED is as common as Friedreich ataxia. There are no reported cases from Turkey. We herein report a 16-year-old Turkish girl with AVED, who was found to have total deletion of the TTPA gene as well as sensorineural deafness, and we present her follow-up data after vitamin E therapy.
authors.affiliation: Department of Pediatrics, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey.
authors.forename: Bülent
authors.initials: B
authors.lastname: Kara
authors.forename: Abdullah
authors.initials: A
authors.lastname: Uzümcü
authors.forename: Oya
authors.initials: O
authors.lastname: Uyguner
authors.forename: Rasim Ozgür
authors.initials: RO
authors.lastname: Rosti
authors.forename: Ayça
authors.initials: A
authors.lastname: Koçbaş
authors.forename: Meral
authors.initials: M
authors.lastname: Ozmen
authors.forename: Hülya
authors.initials: H
authors.lastname: Kayserili
mesh_terms: D000293:Adolescent; D000595:Amino Acid Sequence; D001259:Ataxia / Q000097:blood / Q000150:complications* / Q000235:genetics; D002352:Carrier Proteins / Q000235:genetics; D003638:Deafness / Q000097:blood / Q000150:complications* / Q000235:genetics; D005260:Female; D006801:Humans; D010641:Phenotype; D016133:Polymerase Chain Reaction; D012333:RNA, Messenger / Q000235:genetics; D017384:Sequence Deletion; D014810:Vitamin E / Q000097:blood; D014811:Vitamin E Deficiency / Q000097:blood / Q000150:complications* / Q000235:genetics
chemical_list: D002352:Carrier Proteins; D012333:RNA, Messenger; C017763:alpha-tocopherol transfer protein; D014810:Vitamin E