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De novo point mutations in patients diagnosed with ataxic cerebral palsy

Parolin Schnekenberg, Ricardo ; Perkins, Emma M. ; Miller, Jack W. ; Davies, Wayne I. L. ; D'Adamo, Maria Cristina ; Pessia, Mauro ; Fawcett, Katherine A. ; Sims, David ; Gillard, Elodie ; Hudspith, Karl ; Skehel, Paul ; Williams, Jonathan ; O'Regan, Mary ; Jayawant, Sandeep ; Jefferson, Rosalind ; Hughes, Sarah ; Lustenberger, Andrea ; Ragoussis, Jiannis ; Jackson, Mandy ; Tucker, Stephen J. ; Németh, Andrea H.

In: Brain, 2015, vol. 138, no. 7, p. 1817-1832

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    Titre
    • De novo point mutations in patients diagnosed with ataxic cerebral palsy
    Auteur
    • Parolin Schnekenberg, Ricardo. 1 Wellcome Trust Centre for Human Genetics, University of Oxford, OX3 7BN, UK
    • Perkins, Emma M.. 3 Centre for Integrative Physiology, Euan MacDonald Centre for Motor Neurone Disease Research, University of Edinburgh, Edinburgh, UK
    • Miller, Jack W.. 4 Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DU, UK
    • Davies, Wayne I. L.. 4 Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DU, UK
    • D'Adamo, Maria Cristina. 6 Section of Physiology & Biochemistry, Department of Experimental Medicine, School of Medicine & Surgery, University of Perugia, P.le Gambuli 1, Edificio D, Piano 106132 San Sisto, Perugia, Italy
    • Pessia, Mauro. 6 Section of Physiology & Biochemistry, Department of Experimental Medicine, School of Medicine & Surgery, University of Perugia, P.le Gambuli 1, Edificio D, Piano 106132 San Sisto, Perugia, Italy
    • Fawcett, Katherine A.. 8 CGAT Programme, MRC Functional Genomics Unit, Department of Physiology, Anatomy and Genetics, University of Oxford, South Parks Road, Oxford, OX1 3PT, UK
    • Sims, David. 8 CGAT Programme, MRC Functional Genomics Unit, Department of Physiology, Anatomy and Genetics, University of Oxford, South Parks Road, Oxford, OX1 3PT, UK
    • Gillard, Elodie. 4 Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DU, UK
    • Hudspith, Karl. 4 Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DU, UK
    • Skehel, Paul. 3 Centre for Integrative Physiology, Euan MacDonald Centre for Motor Neurone Disease Research, University of Edinburgh, Edinburgh, UK
    • Williams, Jonathan. 9 Oxford Medical Genetics Laboratories, Churchill Hospital, Oxford, OX3 7LJ, UK
    • O'Regan, Mary. 10 Fraser of Allander Neurosciences Unit, Royal Hospital for Sick Children, Glasgow G3 8SJ, UK
    • Jayawant, Sandeep. 11 Department of Paediatrics, Oxford University Hospitals NHS Trust, Oxford, OX3 9DU, UK
    • Jefferson, Rosalind. 12 Department of Paediatrics, Royal Berkshire Foundation Trust Hospital, Reading, UK
    • Hughes, Sarah. 12 Department of Paediatrics, Royal Berkshire Foundation Trust Hospital, Reading, UK
    • Lustenberger, Andrea. 13 Department of Neuropaediatrics, Development and Rehabilitation, University Children's Hospital, Inselspital, Bern, Switzerland
    • Ragoussis, Jiannis. 1 Wellcome Trust Centre for Human Genetics, University of Oxford, OX3 7BN, UK
    • Jackson, Mandy. 3 Centre for Integrative Physiology, Euan MacDonald Centre for Motor Neurone Disease Research, University of Edinburgh, Edinburgh, UK
    • Tucker, Stephen J.. 14 Clarendon Laboratory, Department of Physics, University of Oxford, OX1 3PU, UK
    • Németh, Andrea H.. 4 Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DU, UK
    Type de document
    • Postprint
    Langue
    • Anglais
    Publié dans
    • Brain, 2015, vol. 138, no. 7, p. 1817-1832. Oxford University Press
    Autre version électronique
    Identifiant OAI-PMH
    • oai:doc.rero.ch:294810
    Summary
    Cerebral palsy is commonly attributed to perinatal asphyxia. However, Schnekenberg et al. describe here four individuals with ataxic cerebral palsy likely due to de novo dominant mutations associated with increased paternal age. Therefore, patients with cerebral palsy should be investigated for genetic causes before the disorder is ascribed to asphyxia