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

Helen Ling1, Mark Braschinsky, Pille Taba

  • 1Reta Lila Weston Institute of Neurological Studies, Institute of Neurology, University College London, London, United Kingdom.

Abstract

Insights

Young-onset parkinsonism was misdiagnosed for decades in four patients. Prompt levodopa treatment led to significant improvement, highlighting diagnostic challenges in movement disorders.

Area of Science:

  • Neurology
  • Genetics
  • Movement Disorders

Background:

  • Presents four cases of young-onset monogenetic parkinsonism.
  • Patients experienced misdiagnosis for 10-23 years as psychogenic movement disorder or chronic fatigue syndrome.

Observation:

  • Misdiagnosis delayed definitive treatment and management.
  • Relentless progression of motor handicap was noted despite incorrect diagnoses.

Findings:

  • All four patients showed rapid and excellent response to levodopa treatment.
  • Three patients experienced early-onset interdose dyskinesias.

Implications:

  • Highlights diagnostic challenges in identifying monogenetic parkinsonism.
  • Suggests the need for increased awareness and diagnostic accuracy for early-onset parkinsonism.
  • DAT scanning can aid in confirming parkinsonism diagnoses.

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