caa a22 4500 44580856X CHVBK 20180317145204.0 cr unu---uuuuu 170323e20111201xx s 000 0 eng 10.1007/s00415-011-6110-1 doi (NATIONALLICENCE)springer-10.1007/s00415-011-6110-1 Phenotype analysis in patients with early onset Parkinson's disease with and without parkin mutations [Elektronische Daten] [Hee Kim, Han-Joon Kim, Jee-Young Lee, Ji Yun, So Kim, Sung Park, Beom Jeon] 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 >40years, 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 ≤40years. Of the 124 patients with EOPD with an AAO of ≤40years 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 ≤35years revealed similar results. Phenotype of EOPD may depend on early AAOs rather than presence of parkin mutations. Springer-Verlag, 2011 Parkinson's disease nationallicence Genetics nationallicence Movement disorders nationallicence Neurogenetics nationallicence Kim Hee Department of Neurology, Konkuk University Hospital, Seoul, Korea aut Kim Han-Joon Parkinson Disease Study Group, Clinical Research Institute, Seoul National University Hospital, Seoul, Korea aut Lee Jee-Young Parkinson Disease Study Group, Clinical Research Institute, Seoul National University Hospital, Seoul, Korea aut Yun Ji Parkinson Disease Study Group, Clinical Research Institute, Seoul National University Hospital, Seoul, Korea aut Kim So Department of Laboratory Medicine, Seoul National University Hospital, Seoul, Korea aut Park Sung Department of Laboratory Medicine, Seoul National University Hospital, Seoul, Korea aut Jeon Beom Parkinson Disease Study Group, Clinical Research Institute, Seoul National University Hospital, Seoul, Korea aut Journal of Neurology Springer-Verlag 258/12(2011-12-01), 2260-2267 0340-5354 258:12<2260 2011 258 415 https://doi.org/10.1007/s00415-011-6110-1 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00415-011-6110-1 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Kim Hee Department of Neurology, Konkuk University Hospital, Seoul, Korea aut NATIONALLICENCE 700 1- Kim Han-Joon Parkinson Disease Study Group, Clinical Research Institute, Seoul National University Hospital, Seoul, Korea aut NATIONALLICENCE 700 1- Lee Jee-Young Parkinson Disease Study Group, Clinical Research Institute, Seoul National University Hospital, Seoul, Korea aut NATIONALLICENCE 700 1- Yun Ji Parkinson Disease Study Group, Clinical Research Institute, Seoul National University Hospital, Seoul, Korea aut NATIONALLICENCE 700 1- Kim So Department of Laboratory Medicine, Seoul National University Hospital, Seoul, Korea aut NATIONALLICENCE 700 1- Park Sung Department of Laboratory Medicine, Seoul National University Hospital, Seoul, Korea aut NATIONALLICENCE 700 1- Jeon Beom Parkinson Disease Study Group, Clinical Research Institute, Seoul National University Hospital, Seoul, Korea aut NATIONALLICENCE 773 0- Journal of Neurology Springer-Verlag 258/12(2011-12-01), 2260-2267 0340-5354 258:12<2260 2011 258 415 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer