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Clinical features and [11C]-CFT PET analysis of PARK2, PARK6, PARK7-linked autosomal recessive early onset Parkinsonism
- نوع فایل : کتاب
- زبان : انگلیسی
- مؤلف : Ji-feng Guo • Lei Wang • Dan He • Qiao-hong Ou Yang • Zhong-xiang Duan • Xue-wei Zhang • Li-luo Nie • Xin-xiang Yan • Bei-sha Tang
- چاپ و سال / کشور: 2010
Description
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.
Neurol Sci (2011) 32:35–40 DOI 10.1007/s10072-010-0360-z Received: 4 October 2009 / Accepted: 15 June 2010 / Published online: 7 July 2010
