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

Abstract

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.