title: Early onset of Friedreich's ataxia in a compound heterozygote.
abstract: Friedreich's ataxia (FA) is an autosomal recessive condition caused by a GAA trinucleotide repeat expansion in the X25 gene on chromosome 9. We describe an unusual form of "pseudodominant" inheritance to illustrate how a diagnosis of FA in a parent does not preclude the diagnosis in the child.
authors.affiliation: Craigavon Area Hospital, 68 Lurgan Road, Portadown, Co. Armagh BT63 5QQ, Northern Ireland, UK.
authors.forename: M C
authors.initials: MC
authors.lastname: McGovern
authors.forename: M
authors.initials: M
authors.lastname: Stewart
authors.forename: P J
authors.initials: PJ
authors.lastname: Morrison
authors.forename: D
authors.initials: D
authors.lastname: Webb
authors.forename: S
authors.initials: S
authors.lastname: Hawkins
mesh_terms: D017668:Age of Onset; D002648:Child; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D005260:Female; D005621:Friedreich Ataxia / Q000235:genetics*; D005808:Genes, Recessive / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*