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- CLINICA NEUROL, 46: 199－202, 2006
- Vol.46 No.3 contents
Case Report
A 62-year-old woman with early-onset Parkinson's disease associated with the PINK1 gene deletion
Masahiko Atsumi, M.D.1)*, Yuanzhe Li, M.D.2), Hiroyuki Tomiyama, M.D.2), Kenichi Sato, M.D., Ph.D.2) and Nobutaka Hattori, M.D, Ph.D.2)
1)Department of Neurology, Baba Memorial Hospital
*Department of Neurology, Kinki University School of Medicine
2)Department of Neurology, Juntendo University School of Medicine
We report the first case of early-onset Parkinson's disease (EOP) with the PTEN-induced kinase 1 (PINK1) gene deletion in 62 years old Japanese female. The symptoms were started with unstable gait at the age 38. Parkinsonian symptoms became apparent in 45 years old. L-Dopa was markedly effective on her parkinsonian symptoms. However, equinovarus foot induced by L-Dopa intake appeared three months prior to the admission. On admission, she presented with mild cognitive impairment, severe depression, marked retropulsion, resting tremor in the left upper limb and mild hyperreflexia in the four limbs. Rigidity was not present. Mutational analysis revealed homozygous deletion from exon 6 to 8 in the PINK1 gene. An ethnic diversity in PINK1 mutation is suggested.
(CLINICA NEUROL, 46: 199－202, 2006)
key words: autosomal recessive early onset Parkinson's disease, PTEN-induced kinase 1 (PINK1), PARK6, dystonia, cognitive impairment
(Received: 28-Mar-05)
