Rinsho Shinkeigaku (Clinical Neurology)

Brief Clinical Note

A case of a 30-year history of PARK6 -Findings from functional imaging of the brai-

Hiroshi Yamashita, M.D.1), Tatsuo Kohriyama, M.D.1), Tomohiko Ohshita, M.D.1), Tetsuya Takahashi, M.D.1), Kazuo Hashikawa, M.D.2), Nobutaka Hattori, M.D.3), Hidenao Fukuyama, M.D.2) and Masayasu Matsumoto, M.D.1)

1)Department of Clinical Neuroscience and Therapeutics, Hiroshima University Graduate School of Biomedical Sciences
2)Human Brain Research Center, Kyoto University Graduate School of Medicine
3)Department of Neurology, Juntendo University School of Medicine

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.
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(CLINICA NEUROL, 48: 662|665, 2008)
key words: autosomal recessive juvenile parkinsonism, PARK6, raclopride, positron emission tomography (PET), functional imaging

(Received: 24-Mar-08)