title: 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.affiliation: Molecular Genetics Laboratory, Faculty of Sciences, The Department of Neurology, University of Fez Sidi Med Benabdellah, Hospital of Rabat, Morocco. marzoukina@yahoo.fr
authors.forename: Naima
authors.initials: N
authors.lastname: Marzouki
authors.forename: Ali
authors.initials: A
authors.lastname: Benomar
authors.forename: Mohamed
authors.initials: M
authors.lastname: Yahyaoui
authors.forename: Nezha
authors.initials: N
authors.lastname: Birouk
authors.forename: Mohamed
authors.initials: M
authors.lastname: Elouazzani
authors.forename: Taib
authors.initials: T
authors.lastname: Chkili
authors.forename: Mohamed
authors.initials: M
authors.lastname: Benlemlih
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D000595:Amino Acid Sequence; D001483:Base Sequence; D002352:Carrier Proteins / Q000235:genetics*; D002524:Cerebellar Ataxia / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002898:Chromosomes, Human, Pair 8; D016368:Frameshift Mutation; D005621:Friedreich Ataxia / Q000235:genetics*; D017353:Gene Deletion; D005838:Genotype; D006801:Humans; D008969:Molecular Sequence Data; D009018:Morocco; D010375:Pedigree; D010641:Phenotype; D014811:Vitamin E Deficiency / Q000150:complications / Q000188:drug therapy / Q000235:genetics*; D024502:alpha-Tocopherol / Q000627:therapeutic use
chemical_list: D002352:Carrier Proteins; C017763:alpha-tocopherol transfer protein; D024502:alpha-Tocopherol