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

Authors
 Seungbeen Hong  ;  Suji Lee  ;  Sung-Rae Cho 
Citation
 Brain & Neurorehabilitation, Vol.13(2) : e14, 2020-07 
Journal Title
 Brain & Neurorehabilitation 
ISSN
 1976-8753 
Issue Date
2020-07
Keywords
Juvenile parkinsonism ; Genetic disorders ; Dystonia
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.
Files in This Item:
T202004581.pdf Download
DOI
10.12786/bn.2020.13.e14
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Rehabilitation Medicine (재활의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Urology (비뇨의학교실) > 1. Journal Papers
Yonsei Authors
Cho, Sung-Rae(조성래) ORCID logo https://orcid.org/0000-0003-1429-2684
Hong, Seungbeen(홍승빈)
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/180311
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