title: Decades of delayed diagnosis in 4 levodopa-responsive young-onset monogenetic parkinsonism patients.
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.
authors: Reta Lila Weston Institute of Neurological Studies, Institute of Neurology, University College London, London, United Kingdom.
authors: Helen
authors: H
authors: Ling
authors: Mark
authors: M
authors: Braschinsky
authors: Pille
authors: P
authors: Taba
authors: Siiri-Merike
authors: SM
authors: Lüüs
authors: Karen
authors: K
authors: Doherty
authors: Anna
authors: A
authors: Hotter
authors: Werner
authors: W
authors: Poewe
authors: Andrew J
authors: AJ
authors: Lees
mesh_terms: D000328:Adult; D017668:Age of Onset; D000978:Antiparkinson Agents / Q000627:therapeutic use*; D057210:Delayed Diagnosis; D003937:Diagnosis, Differential; D020821:Dystonic Disorders / Q000175:diagnosis; D015673:Fatigue Syndrome, Chronic / Q000175:diagnosis; D005260:Female; D020233:Gait Disorders, Neurologic / Q000175:diagnosis; D006801:Humans; D007980:Levodopa / Q000627:therapeutic use*; D020734:Parkinsonian Disorders / Q000175:diagnosis* / Q000188:drug therapy* / Q000235:genetics; D013997:Time Factors; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*; D055815:Young Adult
chemical_list: D000978:Antiparkinson Agents; D007980:Levodopa; D044767:Ubiquitin-Protein Ligases; C111567:parkin protein