Original Communication

Journal of Neurology

, Volume 258, Issue 12, pp 2260-2267

First online:

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

  • Hee Jin KimAffiliated withDepartment of Neurology, Konkuk University HospitalParkinson Disease Study Group, Clinical Research Institute, Seoul National University Hospital
  • , Han-Joon KimAffiliated withParkinson Disease Study Group, Clinical Research Institute, Seoul National University HospitalDepartment of Neurology, Seoul National University Hospital
  • , Jee-Young LeeAffiliated withParkinson Disease Study Group, Clinical Research Institute, Seoul National University HospitalDepartment of Neurology, Seoul National University Boramae Hospital
  • , Ji Young YunAffiliated withParkinson Disease Study Group, Clinical Research Institute, Seoul National University HospitalDepartment of Neurology, Seoul National University Hospital
  • , So Yeon KimAffiliated withDepartment of Laboratory Medicine, Seoul National University Hospital
  • , Sung Sup ParkAffiliated withDepartment of Laboratory Medicine, Seoul National University Hospital
  • , Beom S. JeonAffiliated withParkinson Disease Study Group, Clinical Research Institute, Seoul National University HospitalDepartment of Neurology, Seoul National University HospitalNeuroscience Research Institute, College of Medicine, Seoul National UniversityOffice of Health Care Policy, College of Medicine, Seoul National University Hospital Email author 

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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