title: [Case of a 30-year history of PARK6 --findings from functional imaging of the brain].
abstract: We have reported a case of autosomal recessive juvenile parkinsonism PARK6 with a 30-year history. She developed tremor of right lower limb at the age of 23. At the age of 28, she received a clinical diagnosis of early-onset Parkinson's disease. She showed clinical improvements by the treatment with trihexyphenidyl, but symptoms showed slow progression over the subsequent years. L-DOPA therapy was introduced at the age of 42, and five years later, L-DOPA-induced dyskinesia developed. Dystonia, diurnal fluctuation and sleep benefit were absent. She carried a homozygous missense mutation in PINK1 gene, and was diagnosed as PARK6. The brain MRI did not show apparent abnormality. 18F-FDG-positron emission topography (PET) displayed normal uptake in the brain, suggesting normal glucose metabolism. PET imaging with a dopamine D2 receptor ligand 11C-raclopride revealed that postsynaptic 11C-raclopride uptake was normal in the bilateral putamen. After the introduction of pramipexisol, she showed clinical improvements. L-DOPA-induced dyskinesia disappeared with the gradual tapering and withdrawal of L-DOPA. In this PARK6 case, postsynaptic D2 receptors of the nigro-striatal dopaminergic neurons were thought to be maintained despite a long disease history.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Yamashita
authors.forename: Tatsuo
authors.initials: T
authors.lastname: Kohriyama
authors.forename: Tomohiko
authors.initials: T
authors.lastname: Ohshita
authors.forename: Tetsuya
authors.initials: T
authors.lastname: Takahashi
authors.forename: Kazuo
authors.initials: K
authors.lastname: Hashikawa
authors.forename: Nobutaka
authors.initials: N
authors.lastname: Hattori
authors.forename: Hidenao
authors.initials: H
authors.lastname: Fukuyama
authors.forename: Masayasu
authors.initials: M
authors.lastname: Matsumoto
mesh_terms: D000978:Antiparkinson Agents / Q000627:therapeutic use; D052160:Benzothiazoles / Q000627:therapeutic use; D003952:Diagnostic Imaging; D005260:Female; D006801:Humans; D007980:Levodopa / Q000627:therapeutic use; D008875:Middle Aged; D020125:Mutation, Missense; D020734:Parkinsonian Disorders / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D000077487:Pramipexole; D011494:Protein Kinases / Q000235:genetics*; D017448:Receptors, Dopamine D2; D013997:Time Factors; D000099202:PTEN-Induced Putative Kinase
chemical_list: D000978:Antiparkinson Agents; D052160:Benzothiazoles; D007980:Levodopa; D000077487:Pramipexole; D011494:Protein Kinases; D017448:Receptors, Dopamine D2; D000099202:PTEN-Induced Putative Kinase