title: Phenotype analysis in patients with early onset Parkinson's disease with and without parkin mutations.
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.
authors.affiliation: Department of Neurology, Konkuk University Hospital, Seoul, Korea.
authors.forename: Hee Jin
authors.initials: HJ
authors.lastname: Kim
authors.forename: Han-Joon
authors.initials: HJ
authors.lastname: Kim
authors.forename: Jee-Young
authors.initials: JY
authors.lastname: Lee
authors.forename: Ji Young
authors.initials: JY
authors.lastname: Yun
authors.forename: So Yeon
authors.initials: SY
authors.lastname: Kim
authors.forename: Sung Sup
authors.initials: SS
authors.lastname: Park
authors.forename: Beom S
authors.initials: BS
authors.lastname: Jeon
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D001523:Mental Disorders / Q000453:epidemiology* / Q000209:etiology; D019957:Motor Skills Disorders / Q000453:epidemiology* / Q000209:etiology; D009154:Mutation; D010300:Parkinson Disease / Q000150:complications* / Q000235:genetics; D010641:Phenotype; D012678:Sensation Disorders / Q000453:epidemiology* / Q000209:etiology; D020919:Sleep Disorders, Intrinsic / Q000453:epidemiology* / Q000209:etiology; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*; D055815:Young Adult
chemical_list: D044767:Ubiquitin-Protein Ligases; C111567:parkin protein