title: Ataxia with isolated vitamin E deficiency presenting as mutation negative Friedreich's ataxia.
abstract: Ataxia with vitamin E deficiency is an autosomal recessive condition associated with a defect in the a-tocopherol transfer protein. Clinically it manifests as a progressive ataxia with a phenotype resembling that of Friedreich's ataxia. There is some evidence that progression of neurological symptoms is prevented by vitamin E therapy. A patient is described who was given a clinical diagnosis of Friedreich's ataxia. Molecular genetic analysis showed the absence of the frataxin gene expansion. Subsequent vitamin E assay showed deficiency and a diagnosis of ataxia with vitamin E deficiency was made. It is recommended that all patients with ataxia of unknown cause should have vitamin E deficiency excluded. When a diagnosis of Friedreich's ataxia is considered patients should have frataxin analysis in addition. Further, neurologists should be aware that ataxia with vitamin E deficiency may present as "mutation negative" Friedreich's ataxia.
authors.affiliation: Wessex Neurological Centre, Southampton General Hospital, UK.
authors.forename: S R
authors.initials: SR
authors.lastname: Hammans
authors.forename: C R
authors.initials: CR
authors.lastname: Kennedy
mesh_terms: D000293:Adolescent; D001259:Ataxia / Q000175:diagnosis* / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D003951:Diagnostic Errors; D004562:Electrocardiography; D005260:Female; D005621:Friedreich Ataxia / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D033862:Iron-Binding Proteins; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*; D014811:Vitamin E Deficiency / Q000175:diagnosis* / Q000235:genetics*; D000096923:Frataxin
chemical_list: D002352:Carrier Proteins; D033862:Iron-Binding Proteins; D017853:Phosphotransferases (Alcohol Group Acceptor); D000096923:Frataxin; C017763:alpha-tocopherol transfer protein