Pseudodominance in Friedreich ataxia – impact of high prevalence of carriers and intrafamilial clinical variation

Malaquias, M.J., Oliveira, J., Santos, M., Brandão, A.F., Sardoeira, A., Sequeiros, J., Barros, J. and Damásio, J. (2023), Pseudodominance in Friedreich ataxia – impact of high prevalence of carriers and intrafamilial clinical variation. Mov Disord Clin Pract. Accepted Author Manuscript. https://doi.org/10.1002/mdc3.13694 

 Clinicians should be aware of the possibility of pseudodominance when facing an apparent autosomal dominant pedigree, particularly in disorders with high frequency of carriers and variable expression. Otherwise, genetic diagnoses may be delayed.

Pseudodominance in Friedreich ataxia – impact of high prevalence of carriers and intrafamilial clinical variation