Genotype-phenotype correlation in Friedreich's ataxia

G. Kovacevic, S. Todorovic, I. Novakovic, D. Pavicevic Savic, V. Milic Rasic, M. Svetel, V. Dobricic; European Journal of Paediatric Neurology Volume 21, Supplement 1, June 2017, Pages e205–e206, doi:10.1016/j.ejpn.2017.04.1083


Contrary to other published studies we didn’t find any significant correlation between the age of onset and the GAA1 size. Two possible explanation could be the relative small number of patients in our study as well as the small differences in alleles size and age of onset between the patients. We found a correlation between the size of the smaller allele and extensor plantar response and between the size of the larger allele (GAA2) and impaired vibration sense. The duration of the disease is correlated european journal of paediatric neurology 21 (2017) e197 ee213 e205 with presence of nystagmus, foot deformities, upper limb areflexia, dysarthria and ECG abnormality.


Genotype-phenotype correlation in Friedreich's ataxia