title: First case of ataxia with isolated vitamin E deficiency in the Netherlands.
abstract: We present a 36-year-old Dutch woman who suffered from a progressive form of cerebellar ataxia since school age. In her childhood she was diagnosed with Friedreich's ataxia. Genetic analysis of the frataxin gene at 34 years of age, however, had revealed no abnormal GAA triplet expansion. We identified two point mutations in the alpha-tocopherol transport protein (alpha-TTP) gene on chromosome 8q13, and the diagnosis ataxia with isolated vitamin E deficiency (AVED) was made. This report illustrates the diagnosis AVED and its relation to vitamin E metabolism. It is important to evaluate previously made diagnoses when newly developed tests can be performed for confirmation.
authors.affiliation: Department of Neurology, PO Box 10895, 1001 EW, Amsterdam, The Netherlands.
authors.forename: S C
authors.initials: SC
authors.lastname: Ponten
authors.forename: M L
authors.initials: ML
authors.lastname: Kwee
authors.forename: E Ch
authors.initials: ECh
authors.lastname: Wolters
authors.forename: J C M
authors.initials: JC
authors.lastname: Zijlmans
mesh_terms: D000328:Adult; D001259:Ataxia / Q000150:complications*; D002352:Carrier Proteins / Q000235:genetics; D002898:Chromosomes, Human, Pair 8; D005260:Female; D006801:Humans; D009426:Netherlands; D017354:Point Mutation; D014811:Vitamin E Deficiency / Q000150:complications* / Q000235:genetics
chemical_list: D002352:Carrier Proteins; C017763:alpha-tocopherol transfer protein