Get access

Decades of delayed diagnosis in 4 levodopa-responsive young-onset monogenetic parkinsonism patients

Authors

  • Helen Ling BScMed, BMBS, MSc,

    1. Reta Lila Weston Institute of Neurological Studies, Institute of Neurology, University College London, London, United Kingdom
    2. Queen Square Brain Bank for Neurological Disorders and Institute of Neurology, University College London, London, United Kingdom
    Search for more papers by this author
  • Mark Braschinsky MD, PhD,

    1. Department of Neurology, University of Tartu, Tartu, Estonia
    Search for more papers by this author
  • Pille Taba MD,

    1. Department of Neurology, University of Tartu, Tartu, Estonia
    Search for more papers by this author
  • Siiri-Merike Lüüs MD,

    1. Department of Neurology, University of Tartu, Tartu, Estonia
    Search for more papers by this author
  • Karen Doherty MB, BCh, BAO, MRCP,

    1. Reta Lila Weston Institute of Neurological Studies, Institute of Neurology, University College London, London, United Kingdom
    2. Queen Square Brain Bank for Neurological Disorders and Institute of Neurology, University College London, London, United Kingdom
    Search for more papers by this author
  • Anna Hotter MD,

    1. Department of Neurology, University Hospital of Innsbruck, Austria
    Search for more papers by this author
  • Werner Poewe MD,

    1. Department of Neurology, University Hospital of Innsbruck, Austria
    Search for more papers by this author
  • Andrew J. Lees MD FRCP

    Corresponding author
    1. Reta Lila Weston Institute of Neurological Studies, Institute of Neurology, University College London, London, United Kingdom
    2. Queen Square Brain Bank for Neurological Disorders and Institute of Neurology, University College London, London, United Kingdom
    • Reta Lila Weston Institute of Neurological Studies, Institute of Neurology, UCL, 1 Wakefield Street, London, WC1N 1PJ, United Kingdom

    Search for more papers by this author

  • Relevant conflict of interest/financial disclosures: Nothing to report. This work was supported by the Reta Lila Weston Trust.

    Full financial disclosures and author roles may be found in the online version of this article.

Abstract

Background:

We report 4 patients with young-onset monogenetic parkinsonism, each of whom was misdiagnosed with either a psychogenic movement disorder or chronic fatigue syndrome for 10 to 23 years after the onset of their first symptoms.

Results:

Once the diagnosis was eventually made, they all had a rapid and excellent response to levodopa, albeit with the early appearance of interdose dyskinesias in 3.

Conclusions:

We discuss possible reasons for the missed diagnosis despite the relentless progression of their motor handicap. DAT scanning supported the revised clinical diagnosis of parkinsonism. © 2011 Movement Disorder Society

Get access to the full text of this article

Ancillary