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

• Published in: Neurological sciences 2011-02, Vol.32 (1), p.35-40
• Main Authors: 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
• Format: Article
• Language: English
• Subjects: Brain Mapping; Carbon Isotopes; Cocaine - analogs & derivatives; Family Health; Humans; Intracellular Signaling Peptides and Proteins - genetics; Intracellular Signaling Peptides and Proteins - metabolism; Male; Medicine; Medicine & Public Health; Mutation - genetics; Neurology; Neuroradiology; Neurosciences; Neurosurgery; Oncogene Proteins - genetics; Oncogene Proteins - metabolism; Original Article; Parkinsonian Disorders - diagnostic imaging; Parkinsonian Disorders - genetics; Positron-Emission Tomography - methods; Protein Deglycase DJ-1; Protein Kinases - genetics; Protein Kinases - metabolism; Psychiatry; Ubiquitin-Protein Ligases - genetics; Ubiquitin-Protein Ligases - metabolism
• ISSN: 1590-1874; 1590-3478
• DOI: 10.1007/s10072-010-0360-z

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.