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Mov Disord. 2008 Jul 30;23(10):1461-5. doi: 10.1002/mds.22143.

Familial Parkinsonism with digenic parkin and PINK1 mutations.

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  • 1Research Institute for Diseases of Old Age, Juntendo University School of Medicine, Bunkyo-Ku, Tokyo, Japan.


To clarify the genetic correlation between parkin and PINK1, we screened for PINK1 mutations in 175 parkinsonism patients with parkin mutations. We detected two sibling pairs and one sporadic patient carrying both parkin and PINK1 mutations. The age at onset of Parkinsonism of patients with the digenic mutations was lower than that of patients with the same parkin mutation alone. In addition, two of three patients carrying both parkin and PINK1 mutations had schizophrenia. These findings indicate that PINK1 mutation might modify parkin mutation-positive Parkinsonism, and PINK1 mutations might be associated with psychiatric disorders.

Copyright 2008 Movement Disorder Society.

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