title: Pseudodominant Friedreich's ataxia with phenotypic heterogeneity.
abstract: OBJECTIVE
  A family with a clinically heterogeneous progressive ataxia in two generations is presented.
  
  
  METHODS
  Having eliminated mutations within the known dominant spinocerebellar ataxia genes, the family was investigated for expansion at the Friedreich's gene.
  
  
  RESULTS
  The affected members (father, son and daughter) were homozygous for the mutation at the Friedreich's gene, while the unaffected (the mother and her sister) were heterozygous.
  
  
  CONCLUSIONS
  This pseudodominant form of Friedreich's ataxia should be considered in families with an apparently autosomal dominant progressive ataxia in conjunction with sensory neuropathy and pyramidal signs.
authors.affiliation: Department of Neurology, Athens National University, Eginition Hospital, Athens, Greece. mpanas@med.uoa.gr
authors.forename: M
authors.initials: M
authors.lastname: Panas
authors.forename: N
authors.initials: N
authors.lastname: Kalfakis
authors.forename: D
authors.initials: D
authors.lastname: Vassilopoulos
mesh_terms: D000328:Adult; D002648:Child; D002675:Child, Preschool; D005192:Family Health; D005260:Female; D005621:Friedreich Ataxia / Q000235:genetics*; D005799:Genes, Dominant; D018740:Genetic Heterogeneity; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype