Pseudodominant Friedreich's ataxia with phenotypic heterogeneity.
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.
Panas
M
M
Department of Neurology, Athens National University, Eginition Hospital, Athens, Greece. mpanas@med.uoa.gr
Kalfakis
N
N
Vassilopoulos
D
D
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