Details

Autor(en) / Beteiligte

• Guo, Ji-feng
• Wang, Lei
• He, Dan
• Yang, Qiao-hong Ou
• Duan, Zhong-xiang
• Zhang, Xue-wei
• Nie, Li-luo
• Yan, Xin-xiang
• Tang, Bei-sha

Titel

Clinical features and [11C]-CFT PET analysis of PARK2, PARK6, PARK7-linked autosomal recessive early onset Parkinsonism

Ist Teil von

• Neurological sciences, 2011-02, Vol.32 (1), p.35-40

Ort / Verlag

Milan: Springer Milan

Erscheinungsjahr

2011

Quelle

Psychology & Behavioral Sciences Collection

Beschreibungen/Notizen

• 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.