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Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1

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Acknowledgments

The authors thank all the patients who participate in this study and their families, as well as people involved in the collection of samples; the Netherlands Brain Bank (Amsterdam, the Netherlands) for providing brain tissue of the controls; and A. Ingrassia and Dr W.D. van de Berg for technical support in the immunohistochemistry experiments. This study was supported by the “CIBERNED,” the “Ministerio de Economía y Competitividad—“Gobierno de España” (AIB2010PT-00182) and “Instituto de Salud Carlos III (PI12/00742),” and the “Xunta de Galicia, Dirección Xeral de Investigación, Desenvolvemento e Innovación” (10 PXIB 9101 280 PR). CB was recipient of a postdoctoral fellowship from the “Fundação para a Ciência e a Tecnologia”—FCT [SFRH/BPD/63121/2009] until January 2013, and is presently supported by the Medical Research Council (UK).

Conflict of Interest

The authors declare no conflict of interest.

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Authors and Affiliations

  1. Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK

    Conceição Bettencourt

  2. Institute for Molecular and Cell Biology (IBMC), University of Porto, Porto, Portugal

    Conceição Bettencourt

  3. Center of Research in Natural Resources (CIRN) and Department of Biology, University of the Azores, Ponta Delgada, Portugal

    Conceição Bettencourt

  4. Department of Neurology, Hospital Ramón y Cajal, Madrid, Spain

    Justo García de Yébenes, José Luis López-Sendón & Raquel Ros

  5. Department of Clinical Genetics, Neuroscience Campus Amsterdam, VU University Medical Center, Amsterdam, The Netherlands

    Orr Shomroni, Ingrid M. C. Bakker, Sasja Heetveld, Marianna R. Bevova, Shushant Jain, Peter Heutink & Patrizia Rizzu

  6. Division of Nutritional Sciences, Cornell University, Ithaca, NY, USA

    Xingqian Zhang & Shu-Bing Qian

  7. Fundación Pública Galega de Medicina Xenómica and Health Research Institute of Santiago de Compostela (IDIS), Clinical Hospital of Santiago de Compostela-SERGAS, Santiago de Compostela, Spain

    Beatriz Quintáns & María-Jesús Sobrido

  8. European Research Institute for the Biology of Ageing, Groningen, The Netherlands

    Marianna R. Bevova

  9. German Center for Neurodegenerative Diseases, Tübingen, Germany

    Shushant Jain, Peter Heutink & Patrizia Rizzu

  10. Department of Pediatrics, Child Neurology, Neuroscience Campus Amsterdam, VU University Medical Center, Amsterdam, The Netherlands

    Marianna Bugiani

  11. Department of Pathology, VU University Medical Center, Amsterdam, The Netherlands

    Marianna Bugiani

Authors
  1. Conceição Bettencourt
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  2. Justo García de Yébenes
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  3. José Luis López-Sendón
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  7. Ingrid M. C. Bakker
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  10. Beatriz Quintáns
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  11. María-Jesús Sobrido
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  12. Marianna R. Bevova
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  13. Shushant Jain
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  14. Marianna Bugiani
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  16. Patrizia Rizzu
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Corresponding author

Correspondence to Conceição Bettencourt.

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Bettencourt, C., de Yébenes, J.G., López-Sendón, J.L. et al. Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1 . Cerebellum 14, 378–381 (2015). https://doi.org/10.1007/s12311-014-0643-7

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