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Updated: Jul 15, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Pseudodominant Friedreich's ataxia with phenotypic heterogeneity
M Panas1, N Kalfakis, D Vassilopoulos
1Department of Neurology, Athens National University, Eginition Hospital, Athens, Greece. mpanas@med.uoa.gr
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.
Conclusion:
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.
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