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: F Usuki, K Maruyama
• Journal: Journal of neurology, neurosurgery, and psychiatry (J Neurol Neurosurg Psychiatry) Vol. 69 Issue 2 Pg. 254-6 (Aug 2000) ISSN: 0022-3050 [Print] England
• PMID: 10896705 (Publication Type: Case Reports, Journal Article)

Chemical References

• Carrier Proteins
• alpha-tocopherol transfer protein
• Vitamin E

Topics

• Ataxia (diagnosis, genetics)
• Carrier Proteins (biosynthesis, genetics)
• Deafness (etiology)
• Disease Progression
• Electrocardiography
• Female
• Humans
• Magnetic Resonance Imaging
• Middle Aged
• Mutation (genetics)
• Retinitis Pigmentosa (etiology)
• Urination Disorders (etiology)
• Ventricular Premature Complexes (etiology)
• Vitamin E (blood, therapeutic use)
• Vitamin E Deficiency (blood, complications, drug therapy)