title: Ataxia caused by mutations in the alpha-tocopherol transfer protein gene.
abstract: A 48 year old woman with ataxia with vitamin E deficiency is described. Gene analysis identified two point mutations in exon 1 of the alpha-tocopherol transfer protein (alpha-TTP) gene, one missense mutation and an upstream initiation codon mutation in the 5'-untranslated region (Kozak sequence). The latter mutation is the first one identified in the translation regulatory region. This mutation decreased the level of alpha-TTP protein expression. The clinical features included uncommon urinary disturbance and deafness and relatively rare retinitis pigmentosa. Supplementary therapy increased her serum vitamin E concentration to the normal range with mild improvement of the deep senses.
authors.affiliation: Department of Clinical Medicine, National Institute for Minamata Disease, 4058-18 Hama, Minamata 867-0008, Japan. usuki@nimd.go.jp
authors.forename: F
authors.initials: F
authors.lastname: Usuki
authors.forename: K
authors.initials: K
authors.lastname: Maruyama
mesh_terms: D001259:Ataxia / Q000175:diagnosis* / Q000235:genetics*; D002352:Carrier Proteins / Q000096:biosynthesis / Q000235:genetics*; D003638:Deafness / Q000209:etiology; D018450:Disease Progression; D004562:Electrocardiography; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000209:etiology; D014555:Urination Disorders / Q000209:etiology; D018879:Ventricular Premature Complexes / Q000209:etiology; D014810:Vitamin E / Q000097:blood / Q000627:therapeutic use; D014811:Vitamin E Deficiency / Q000097:blood / Q000150:complications* / Q000188:drug therapy
chemical_list: D002352:Carrier Proteins; C017763:alpha-tocopherol transfer protein; D014810:Vitamin E