A case of Friedreich ataxia in an adolescent with 16p11.2 microdeletion syndrome

Valentina Pelliccia, Silvia Ferranti, Rosa Mostardini, Salvatore Grosso; Neurol Sci (2019). doi:10.1007/s10072-019-04075-z

A completely different genetic mechanism is the one responsible for Friedreich ataxia; the disorder is provoked by an unstable expansion of the GAA triplet located in the frataxin gene [4]. Friedreich ataxia is the most common type of inherited ataxia; onset of symptoms usually occurs during adolescence, and clinical course is slowly progressive. The main clinical signs include gait imbalance, abnormal eye movements, scoliosis, feet deformities, urinary dysfunction, and cardiac involvement.

A case of Friedreich ataxia in an adolescent with 16p11.2 microdeletion syndrome