Saccade velocity is reduced in presymptomatic spinocerebellar ataxia type 2

@article{VelzquezPrez2009SaccadeVI,
  title={Saccade velocity is reduced in presymptomatic spinocerebellar ataxia type 2},
  author={Luis C. Vel{\'a}zquez-P{\'e}rez and Carola Seifried and M. Abele and Florentina Wirjatijasa and Georg Auburger},
  journal={Clinical Neurophysiology},
  year={2009},
  volume={120},
  pages={632-635}
}
OBJECTIVE A characteristic feature of spinocerebellar ataxia type 2 (SCA2) is saccadic slowing at early disease stages. We sought to determine whether this sign is detectable before clinical manifestation and quantifies the disease progression throughout life in linear fashion. METHODS In a specialized ataxia clinic, 54 presymptomatic carriers of SCA2 polyglutamine expansions and 56 relatives without mutation were documented with regard to their maximal saccade velocity (MSV). RESULTS Among… CONTINUE READING

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Ataxin - 2 interacts with the DEAD / Hbox RNA helicase DDX 6 and interferes with Pbodies and stress granules

  • U Nonhoff, M Ralser, F Welzel, I Piccini, D Balzereit, ML Yaspo
  • Mol Biol Cell
  • 2007
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