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

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...

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Published inMovement disorders Vol. 26; no. 7; pp. 1337 - 1340
Main Authors Ling, Helen, Braschinsky, Mark, Taba, Pille, Lüüs, Siiri-Merike, Doherty, Karen, Hotter, Anna, Poewe, Werner, Lees, Andrew J.
Format Journal Article
LanguageEnglish
Published Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.06.2011
Wiley
Subjects
Adult
Age of Onset
Antiparkinson Agents - therapeutic use
Biological and medical sciences
chronic fatigue syndrome
conversion disorder
Delayed Diagnosis
Diagnosis, Differential
Dystonic Disorders - diagnosis
Fatigue Syndrome, Chronic - diagnosis
Female
Gait Disorders, Neurologic - diagnosis
Humans
Levodopa - therapeutic use
Medical sciences
monogenetic parkinsonism
Multiple sclerosis and variants. Guillain barré syndrome and other inflammatory polyneuropathies. Leukoencephalitis
Neurology
parkin
Parkinsonian Disorders - diagnosis
Parkinsonian Disorders - drug therapy
Parkinsonian Disorders - genetics
psychogenic movement disorders
Time Factors
Ubiquitin-Protein Ligases - genetics
Young Adult
Human
Nervous system diseases
psychogenic movement disorders
Chronic fatigue syndrome
conversion disorder
Parkinsonism
monogenetic parkinsonism
Somatoform disorder
Somatic conversion
Psychogenic
Diagnosis
Levodopa
Parkin
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Summary: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
Bibliography:ArticleID:MDS23563
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.
ark:/67375/WNG-H1P0B13B-P
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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.
Relevant conflict of interest/financial disclosures
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ISSN:0885-3185
1531-8257
DOI:10.1002/mds.23563