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

Mov Disord. 2011 Jun;26(7):1337-40. doi: 10.1002/mds.23563. Epub 2011 Mar 29.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Age of Onset
  • Antiparkinson Agents / therapeutic use*
  • Delayed Diagnosis*
  • Diagnosis, Differential
  • Dystonic Disorders / diagnosis
  • Fatigue Syndrome, Chronic / diagnosis
  • Female
  • Gait Disorders, Neurologic / diagnosis
  • Humans
  • Levodopa / therapeutic use*
  • Parkinsonian Disorders / diagnosis*
  • Parkinsonian Disorders / drug therapy*
  • Parkinsonian Disorders / genetics
  • Time Factors
  • Ubiquitin-Protein Ligases / genetics*
  • Young Adult

Substances

  • Antiparkinson Agents
  • Levodopa
  • Ubiquitin-Protein Ligases
  • parkin protein