Brain Neurorehabil.  2020 Jul;13(2):e14. 10.12786/bn.2020.13.e14.

Juvenile Parkinsonism with PARK2 Gene Mutation Misdiagnosed as Dopa-responsive Dystonia: a Case Report

  • 1Department and Research Institute of Rehabilitation Medicine, Yonsei University College of Medicine, Seoul, Korea
  • 2Brain Korea 21 PLUS Project for Medical Science, Yonsei University College of Medicine, Seoul, Korea


Parkinson's disease is prevalent in elderly patients, usually aged over 50 years. If clinical symptoms of parkinsonism appear before 21 years of age, it is called juvenile parkinsonism (JP). JP may present atypical features such as dystonia, and is often misdiagnosed as other diseases, including dopa-responsive dystonia (DRD). Here, we report a case of JP with PARK2 mutation misdiagnosed as DRD. A 32-year old female, who presented dystonia of both legs, was initially diagnosed with hereditary spastic paraplegia and showed a dramatic response to low-dose L-dopa, which led to the diagnosis of DRD. However, Parkinson's disease caused by a mutation in the PARK2 gene was later diagnosed via next-generation sequencing. Accurate understanding of JP is necessary for early diagnosis and comprehensive management of movement disorders at a young age.


Juvenile parkinsonism; Genetic disorders; Dystonia
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