RT Journal Article
SR Electronic
T1 Ataxia caused by mutations in the α-tocopherol transfer protein gene
JF Journal of Neurology, Neurosurgery & Psychiatry
JO J Neurol Neurosurg Psychiatry
FD BMJ Publishing Group Ltd
SP 254
OP 256
DO 10.1136/jnnp.69.2.254
VO 69
IS 2
A1 Fusako Usuki
A1 Kei Maruyama
YR 2000
UL http://jnnp.bmj.com/content/69/2/254.abstract
AB A 48 year old woman with ataxia with vitamin E deficiency is described. Gene analysis identified two point mutations in exon 1 of the α-tocopherol transfer protein (α-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 α-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.