Clinical features and [11C]-CFT PET analysis of PARK2, PARK6, PARK7-linked autosomal recessive early onset Parkinsonism.
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 [(11)C]-CFT positron emission tomography. A marked bilaterally and dissymmetrically decrement of [(11)C]-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 [(11)C]-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.
Guo
Ji-feng
JF
Department of Neurology, Xiangya Hospital, Central South University, Changsha, 410008, Hunan, People's Republic of China.
Wang
Lei
L
He
Dan
D
Yang
Qiao-hong Ou
QH
Duan
Zhong-xiang
ZX
Zhang
Xue-wei
XW
Nie
Li-luo
LL
Yan
Xin-xiang
XX
Tang
Bei-sha
BS
D001931:Brain Mapping; D002247:Carbon Isotopes; D003042:Cocaine / Q000031:analogs & derivatives; D005192:Family Health; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics* / Q000378:metabolism; D008297:Male; D009154:Mutation / Q000235:genetics; D015513:Oncogene Proteins / Q000235:genetics* / Q000378:metabolism; D020734:Parkinsonian Disorders / Q000000981:diagnostic imaging* / Q000235:genetics*; D049268:Positron-Emission Tomography / Q000379:methods; D000071617:Protein Deglycase DJ-1; D011494:Protein Kinases / Q000235:genetics* / Q000378:metabolism; D044767:Ubiquitin-Protein Ligases / Q000235:genetics* / Q000378:metabolism; D000099202:PTEN-Induced Putative Kinase
D002247:Carbon Isotopes; D003042:Cocaine; D047908:Intracellular Signaling Peptides and Proteins; D015513:Oncogene Proteins; D000071617:Protein Deglycase DJ-1; D011494:Protein Kinases; D044767:Ubiquitin-Protein Ligases; D000099202:PTEN-Induced Putative Kinase; C088277:difluoropine; C111567:parkin protein; C105131:PARK7 protein, human