Phenotype analysis in patients with early onset Parkinson's disease with and without parkin mutations

Hee Jin Kim, Han Joon Kim, Jee Young Lee, Ji Young Yun, So Yeon Kim, Sung Sup Park, Beom S. Jeon

Research output: Contribution to journalArticlepeer-review

26 Scopus citations


The data regarding whether parkin genotype attributes phenotypic variation are conflicting. Since the incidence of parkin mutations is very low in patients with an age at onset (AAO) of[40 years, previous studies have unfairly compared phenotypes of two early onset Parkinson's disease (EOPD) groups with different AAOs. Thus, we compared the clinical features between patients with and without parkin mutations in EOPD with an AAO of B40 years. Of the 124 patients with EOPD with an AAO of B40 years who were recruited and screened for parkin mutations, 84 completed assessments for comparison of the phenotype according to parkin genotype. Fourteen of the 84 subjects carried two parkin mutations; 6, a single mutation; and 64, no mutations. Patients with two mutations had significantly younger AAOs, longer duration of PD, and more common family history than patients without parkin mutations. Otherwise, motor and nonmotor symptoms did not differ between them. Subgroup analysis of EOPD with an AAO of B35 years revealed similar results. Phenotype of EOPD may depend on early AAOs rather than presence of parkin mutations.

Original languageEnglish
Pages (from-to)2260-2267
Number of pages8
JournalJournal of Neurology
Issue number12
StatePublished - Dec 2011

Bibliographical note

Funding Information:
This study was supported by a grant from Seoul National University Hospital (03-2008-015) and the Korean Health 21 R&D Project, Ministry of Health & Welfare, Republic of Korea (A030001). We deeply appreciate a generous donation from Mr. Chung Suk-Gyoo and Sinyang Cultural Foundation. The technical assistance of Ji Yeon Lim at the Clinical Research Institute, Seoul National University Hospital is appreciated.


  • Genetics
  • Movement disorders
  • Neurogenetics
  • Parkinson's disease


Dive into the research topics of 'Phenotype analysis in patients with early onset Parkinson's disease with and without parkin mutations'. Together they form a unique fingerprint.

Cite this