Biological and clinical characteristics of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 in the longitudinal RISCA study: analysis of baseline data.

@article{Jacobi2013BiologicalAC,
  title={Biological and clinical characteristics of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 in the longitudinal RISCA study: analysis of baseline data.},
  author={Heike Jacobi and Kathrin Reetz and Sophie T{\'e}z{\'e}nas du Montcel and Peter Bauer and Caterina Mariotti and Lorenzo Nanetti and Maria J Rakowicz and Anna Sulek and Alexandra Durr and Perrine Charles and Alessandro Filla and Antonella Antenora and Ludger Sch{\"o}ls and Julia Schicks and Jon Infante and Jun-Suk Kang and D. Timmann and Roberto Di Fabio and M. Masciullo and L{\'a}szl{\'o} Baliko and Zsolt B{\'a}nfai and Sylvia M. Boesch and Katrin Buerk and Annkathrin Peltz and J{\"o}rg Bernhard Schulz and Isabelle Dufaure-Gar{\'e} and Thomas Klockgether},
  journal={The Lancet. Neurology},
  year={2013},
  volume={12 7},
  pages={650-8}
}
BACKGROUND Spinocerebellar ataxias (SCAs) are autosomal, dominantly inherited, fully penetrant neurodegenerative diseases. Our aim was to study the preclinical stage of the most common SCAs: SCA1, SCA2, SCA3, and SCA6. METHODS Between Sept 13, 2008, and Dec 1, 2011, offspring or siblings of patients with SCA1, SCA2, SCA3, or SCA6 were enrolled into a prospective, longitudinal observational study at 14 European centres. To be eligible for inclusion in our study, individuals had to have no… CONTINUE READING
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