Pseudodominant Friedreich's ataxia with phenotypic heterogeneity.Acta Neurol Scand. 2007 May; 115(5):364-6.AN
A family with a clinically heterogeneous progressive ataxia in two generations is presented.
Having eliminated mutations within the known dominant spinocerebellar ataxia genes, the family was investigated for expansion at the Friedreich's gene.
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.
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.