caa a22 4500 445355425 CHVBK 20180317142858.0 cr unu---uuuuu 170323e20110201xx s 000 0 eng 10.1007/s10072-010-0360-z doi (NATIONALLICENCE)springer-10.1007/s10072-010-0360-z Clinical features and [11C]-CFT PET analysis of PARK2, PARK6, PARK7-linked autosomal recessive early onset Parkinsonism [Elektronische Daten] [Ji-feng Guo, Lei Wang, Dan He, Qiao-hong Yang, Zhong-xiang Duan, Xue-wei Zhang, Li-luo Nie, Xin-xiang Yan, Bei-sha Tang] Mutations in the Parkin, PINK1, and DJ-1 genes can cause autosomal recessive early onset Parkinsonism. We studied three families with the mutations of the Parkin, PINK1 and DJ-1 genes, respectively, with a dopamine transporter ligand [11C]-CFT positron emission tomography. A marked bilaterally and dissymmetrically decrement of [11C]-CFT uptake was found in all these patients, and putamen as well as caudate nucleus was affected. We also found asymptomatic Parkin and PINK1 heterozygotes showed a mild but significant decrement in [11C]-CFT uptake, but this phenomenon was not found in the DJ-1-heterozygotes. Our results suggested the three autosomal recessive forms of early onset are similar to each other on pathophysiological grounds, a sub-clinical disease process in Parkin and PINK1-heterozygotes, but not in DJ-1-heterozygotes. Springer-Verlag, 2010 Autosomal recessive early onset Parkinsonism nationallicence Parkin nationallicence PINK1 nationallicence DJ - 1 nationallicence Positron emission tomography nationallicence Guo Ji-feng Department of Neurology, Xiangya Hospital, Central South University, 410008, Changsha, Hunan, People's Republic of China aut Wang Lei Department of Neurology, Xiangya Hospital, Central South University, 410008, Changsha, Hunan, People's Republic of China aut He Dan Department of Neurology, Xiangya Hospital, Central South University, 410008, Changsha, Hunan, People's Republic of China aut Yang Qiao-hong PET Centre of the First Affiliated Hospital of PLA General Hospital, 100037, Beijing, People's Republic of China aut Duan Zhong-xiang PET Centre of the First Affiliated Hospital of PLA General Hospital, 100037, Beijing, People's Republic of China aut Zhang Xue-wei Department of Neurology, Xiangya Hospital, Central South University, 410008, Changsha, Hunan, People's Republic of China aut Nie Li-luo Department of Neurology, Xiangya Hospital, Central South University, 410008, Changsha, Hunan, People's Republic of China aut Yan Xin-xiang Department of Neurology, Xiangya Hospital, Central South University, 410008, Changsha, Hunan, People's Republic of China aut Tang Bei-sha Department of Neurology, Xiangya Hospital, Central South University, 410008, Changsha, Hunan, People's Republic of China aut Neurological Sciences Springer Milan 32/1(2011-02-01), 35-40 1590-1874 32:1<35 2011 32 10072 https://doi.org/10.1007/s10072-010-0360-z text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10072-010-0360-z text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Guo Ji-feng Department of Neurology, Xiangya Hospital, Central South University, 410008, Changsha, Hunan, People's Republic of China aut NATIONALLICENCE 700 1- Wang Lei Department of Neurology, Xiangya Hospital, Central South University, 410008, Changsha, Hunan, People's Republic of China aut NATIONALLICENCE 700 1- He Dan Department of Neurology, Xiangya Hospital, Central South University, 410008, Changsha, Hunan, People's Republic of China aut NATIONALLICENCE 700 1- Yang Qiao-hong PET Centre of the First Affiliated Hospital of PLA General Hospital, 100037, Beijing, People's Republic of China aut NATIONALLICENCE 700 1- Duan Zhong-xiang PET Centre of the First Affiliated Hospital of PLA General Hospital, 100037, Beijing, People's Republic of China aut NATIONALLICENCE 700 1- Zhang Xue-wei Department of Neurology, Xiangya Hospital, Central South University, 410008, Changsha, Hunan, People's Republic of China aut NATIONALLICENCE 700 1- Nie Li-luo Department of Neurology, Xiangya Hospital, Central South University, 410008, Changsha, Hunan, People's Republic of China aut NATIONALLICENCE 700 1- Yan Xin-xiang Department of Neurology, Xiangya Hospital, Central South University, 410008, Changsha, Hunan, People's Republic of China aut NATIONALLICENCE 700 1- Tang Bei-sha Department of Neurology, Xiangya Hospital, Central South University, 410008, Changsha, Hunan, People's Republic of China aut NATIONALLICENCE 773 0- Neurological Sciences Springer Milan 32/1(2011-02-01), 35-40 1590-1874 32:1<35 2011 32 10072 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer