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: Helen Ling, Mark Braschinsky, Pille Taba, Siiri-Merike Lüüs, Karen Doherty, Anna Hotter, Werner Poewe, Andrew J Lees
• Journal: Movement disorders : official journal of the Movement Disorder Society (Mov Disord) Vol. 26 Issue 7 Pg. 1337-40 (Jun 2011) ISSN: 1531-8257 [Electronic] United States
• PMID: 21449012 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2011 Movement Disorder Society.

Chemical References

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

Topics

• 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, drug therapy, genetics)
• Time Factors
• Ubiquitin-Protein Ligases (genetics)
• Young Adult