Journal of Neurology

, Volume 258, Issue 12, pp 2260–2267 | Cite as

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
Original Communication

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 ≤40 years. Of the 124 patients with EOPD with an AAO of ≤40 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 ≤35 years revealed similar results. Phenotype of EOPD may depend on early AAOs rather than presence of parkin mutations.

Keywords

Parkinson’s disease Genetics Movement disorders Neurogenetics 

Supplementary material

415_2011_6110_MOESM1_ESM.doc (151 kb)
Supplementary material 1 (DOC 151 kb)

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Copyright information

© Springer-Verlag 2011

Authors and Affiliations

  • Hee Jin Kim
    • 1
    • 2
  • Han-Joon Kim
    • 2
    • 3
  • Jee-Young Lee
    • 2
    • 4
  • Ji Young Yun
    • 2
    • 5
  • So Yeon Kim
    • 6
  • Sung Sup Park
    • 6
  • Beom S. Jeon
    • 2
    • 3
    • 7
    • 8
  1. 1.Department of NeurologyKonkuk University HospitalSeoulKorea
  2. 2.Parkinson Disease Study Group, Clinical Research InstituteSeoul National University HospitalSeoulKorea
  3. 3.Department of NeurologySeoul National University HospitalSeoulKorea
  4. 4.Department of NeurologySeoul National University Boramae HospitalSeoulKorea
  5. 5.Department of NeurologySeoul National University HospitalSeoulKorea
  6. 6.Department of Laboratory MedicineSeoul National University HospitalSeoulKorea
  7. 7.Neuroscience Research Institute, College of MedicineSeoul National UniversitySeoulKorea
  8. 8.Office of Health Care Policy, College of MedicineSeoul National University HospitalSeoulKorea

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