Nonataxia symptoms in Friedreich Ataxia

@article{Reetz2018NonataxiaSI,
  title={Nonataxia symptoms in Friedreich Ataxia},
  author={K. Reetz and I. Dogan and C. Hohenfeld and C. Didszun and P. Giunti and C. Mariotti and A. Durr and S. Boesch and T. Klopstock and Francisco Javier Rodr{\'i}guez de Rivera Garrido and L. Sch{\"o}ls and I. Giordano and K. B{\"u}rk and M. Pandolfo and J. Schulz},
  journal={Neurology},
  year={2018},
  volume={91},
  pages={e917 - e930}
}
Objective To provide a systematic evaluation of the broad clinical variability in Friedreich ataxia (FRDA), a multisystem disorder presenting mainly with afferent ataxia but also a complex phenotype of nonataxia symptoms. Methods From the large database of the European Friedreich’s Ataxia Consortium for Translational Studies, 650 patients with genetically confirmed FRDA were included. Detailed data of medical history documentation, questionnaires, and reports on clinical features were analyzed… Expand

Paper Mentions

Observational Patient Registry Clinical Trial
This is a multi-centre, multi-national, prospective, observational study of Friedreich's Ataxia (FRDA) with a control group to: - obtain natural history data on individuals… Expand
ConditionsFriedreich's Ataxia
Health related quality of life in Friedreich Ataxia in a large heterogeneous cohort
Cerebellar cognitive disorder parallels cerebellar motor symptoms in Friedreich ataxia
Age of onset determines intrinsic functional brain architecture in Friedreich ataxia
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