Get access

Clinical features and neuroimaging of PARK7-linked parkinsonism

Authors

  • Marieke Dekker MD,

    Corresponding author
    1. Genetic-Epidemiologic Unit, Departments of Epidemiology and Biostatistics and Clinical Genetics, Erasmus Medical Centre Rotterdam, The Netherlands
    • Room Ee 22:00, Genetic-Epidemiologic Unit, Erasmus Medical Centre, PO Box 1738, 3000 DR Rotterdam, The Netherlands
    Search for more papers by this author
  • Vincenzo Bonifati MD,

    1. Genetic-Epidemiologic Unit, Departments of Epidemiology and Biostatistics and Clinical Genetics, Erasmus Medical Centre Rotterdam, The Netherlands
    2. Department of Neurological Sciences, La Sapienza University, Rome, Italy
    Search for more papers by this author
  • John van Swieten MD, PhD,

    1. Department of Neurology, Erasmus Medical Centre Rotterdam, The Netherlands
    Search for more papers by this author
  • Nico Leenders MD, PhD,

    1. Department of Neurology, University Hospital Groningen, The Netherlands
    Search for more papers by this author
  • Robert-Jan Galjaard MD,

    1. Genetic-Epidemiologic Unit, Departments of Epidemiology and Biostatistics and Clinical Genetics, Erasmus Medical Centre Rotterdam, The Netherlands
    Search for more papers by this author
  • Pieter Snijders MD,

    1. Genetic-Epidemiologic Unit, Departments of Epidemiology and Biostatistics and Clinical Genetics, Erasmus Medical Centre Rotterdam, The Netherlands
    Search for more papers by this author
  • Marten Horstink MD, PhD,

    1. Department of Neurology, University Medical Center Nijmegen, The Netherlands
    Search for more papers by this author
  • Peter Heutink PhD,

    1. Genetic-Epidemiologic Unit, Departments of Epidemiology and Biostatistics and Clinical Genetics, Erasmus Medical Centre Rotterdam, The Netherlands
    Search for more papers by this author
  • Ben Oostra PhD,

    1. Genetic-Epidemiologic Unit, Departments of Epidemiology and Biostatistics and Clinical Genetics, Erasmus Medical Centre Rotterdam, The Netherlands
    Search for more papers by this author
  • Cornelia van Duijn PhD

    1. Genetic-Epidemiologic Unit, Departments of Epidemiology and Biostatistics and Clinical Genetics, Erasmus Medical Centre Rotterdam, The Netherlands
    Search for more papers by this author

Abstract

We recently reported linkage to chromosome 1p36 (the PARK7-locus) in a family with early-onset parkinsonism. Linkage to this locus has since been confirmed in an independent data set. We describe clinical and neuroimaging features of the 4 patients in the original PARK7-linked kindred. Age at onset of parkinsonism varied from 27 to 40 years. Clinical progression was slow, and response to dopaminergic therapy good. The clinical spectrum ranged from mild hypokinesia and rigidity, to severe parkinsonism with levodopa-induced dyskinesias and motor fluctuation. Three of four patients with PARK7-linked parkinsonism exhibited psychiatric disturbances. Structural neuroimaging was unremarkable, but functional imaging of the brain, carried out in 3 patients, showed significant evidence for a presynaptic dopamine deficit, and assessment of cerebral glucose metabolism, as carried out in 1 patient, showed possible cerebellar involvement. © 2003 Movement Disorder Society

Ancillary