Ataxia with isolated vitamin E deficiency: a Japanese family carrying a novel mutation in the alpha-tocopherol transfer protein gene.
We report a Japanese family with ataxia with isolated vitamin E deficiency (AVED). Gene analysis revealed a single nucleotide substitution of T to C at nucleotide position 2 in the alpha-tocopherol transfer protein gene (TTPA). This substitution abolishes the start codon. The proband and his affected sister were homozygous for this mutation, and their serum alpha-tocopherol concentrations were remarkably reduced. Relations between the mutations and clinical features are discussed.
Hoshino
M
M
Department of Neurology, Graduate School of Medicine, University of Tokyo, Japan.
Masuda
N
N
Ito
Y
Y
Murata
M
M
Goto
J
J
Sakurai
M
M
Kanazawa
I
I
D000328:Adult; D001259:Ataxia / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D007564:Japan; D008297:Male; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D016133:Polymerase Chain Reaction; D014811:Vitamin E Deficiency / Q000235:genetics*
D002352:Carrier Proteins; C017763:alpha-tocopherol transfer protein