Functional analysis of DCTN1 as a Parkinson disease related gene

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Perry syndrome is characterized by autosomal dominant parkinsonism with mental depression, weight loss and central hypoventilation. It has been thought to be rare disorder, however, after our first report from Japan in 2002, newly discovered families with this syndrome has been discovered throughout the world. DCTN1 gene is identified as a causative gene for Perry syndrome in 2009. Our purpose is to characterize this syndrome clinically and pathologically, in addition, to analyze function andpathogenesis of DCTN1 as a Parkinson disease related gene.