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

23 Scopus citations

Abstract

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
Volume258
Issue number12
DOIs
StatePublished - Dec 2011

Keywords

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

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