Advances in the Genetics of Parkinson's Disease: A Guide for the Clinician

Authors

  • Una-Marie Sheerin MRCP,

    1. Department of Molecular Neuroscience, UCL Institute of Neurology, University College London, London, United Kingdom
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  • Henry Houlden PhD, FRCP,

    1. Department of Molecular Neuroscience, UCL Institute of Neurology, University College London, London, United Kingdom
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  • Nicholas W. Wood PhD ,FRCP

    Corresponding author
    1. UCL Department of Molecular Neuroscience and UCL Genetics Institute, University College London, London, United Kingdom
    • Correspondence to: Prof. Nicholas W. Wood, Department of Molecular Neuroscience (Box 12), UCL Institute of Neurology, Queen Square, London WC1N 3BG, United Kingdom; E-mail: n.wood@ucl.ac.uk

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Abstract

Over the last 16 years, insights in clinical and genetic characteristics of Parkinson's disease (PD) have increased substantially. We summarize the clinical, genetic, and pathological findings of autosomal dominant PD linked to mutations in SNCA, leucine-rich repeat kinase 2, vacuolar protein sorting-35, and eukaryotic translation initiation factor 4 gamma 1 and autosomal recessive PD linked to parkin, PINK1, and DJ-1, as well as autosomal recessive complicated parkinsonian syndromes caused by mutations in ATP13A2, FBXO7, PLA2G6, SYNJ1, and DNAJC6. We also review the advances in high- and low-risk genetic susceptibility factors and present multisystem disorders that may present with parkinsonism as the major clinical feature and provide recommendations for prioritization of genetic testing. Finally, we consider the challenges of future genetic research in PD.

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