Vitamin E deficiency ataxia with (744 del A) mutation on alpha-TTP gene: genetic and clinical peculiarities in Moroccan patients.

Abstract

Ataxia with vitamin E deficiency (AVED) is an autosomal recessive disease characterized clinically by neurological symptoms with often striking resemblance to those of Friedreich's ataxia (FA). Molecular analysis is needed for an early differential diagnosis, in order to initiate therapeutic vitamin E supplementation before damage develops. We studied 16 patients from seven Moroccan families presenting an autosomal recessive Friedreich-like ataxia with vitamin E deficiency. Our patients were homozygous for 744 del A mutation of alpha-TTP gene. Compilation of clinical records revealed a great phenotypic variability and some features indicating a new possible role of vitamin E in hypothalamo-hypophysial system regulation and cardiomyopathy prevention. Early vitamin E supplementation may provide considerable improvement of neurological signs and other associated abnormalities. Clinical heterogeneity is for involvement of other non-genetic defect and indicated another role of vitamin E, which should be better studied.

• Authors: Naima Marzouki, Ali Benomar, Mohamed Yahyaoui, Nezha Birouk, Mohamed Elouazzani, Taib Chkili, Mohamed Benlemlih
• Journal: European journal of medical genetics (Eur J Med Genet) 2005 Jan-Mar Vol. 48 Issue 1 Pg. 21-8 ISSN: 1769-7212 [Print] Netherlands
• PMID: 15953402 (Publication Type: Journal Article)

Chemical References

• Carrier Proteins
• alpha-tocopherol transfer protein
• alpha-Tocopherol

Topics

• Adolescent
• Age of Onset
• Amino Acid Sequence
• Base Sequence
• Carrier Proteins (genetics)
• Cerebellar Ataxia (genetics)
• Child
• Child, Preschool
• Chromosomes, Human, Pair 8
• Frameshift Mutation
• Friedreich Ataxia (genetics)
• Gene Deletion
• Genotype
• Humans
• Molecular Sequence Data
• Morocco
• Pedigree
• Phenotype
• Vitamin E Deficiency (complications, drug therapy, genetics)
• alpha-Tocopherol (therapeutic use)