Article
A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease.
American journal of human genetics - 15 Jul 2011
Zimprich Alexander, Benet-Pagès Anna, Struhal Walter, Graf Elisabeth, Eck Sebastian H, Offman Marc N, Haubenberger Dietrich, Spielberger Sabine, Schulte Eva C, Lichtner Peter, Rossle Shaila C, Klopp Norman, Wolf Elisabeth, Seppi Klaus, Pirker Walter, Presslauer Stefan, Mollenhauer Brit, Katzenschlager Regina, Foki Thomas, Hotzy Christoph, Reinthaler Eva, Harutyunyan Ashot, Kralovics Robert, Peters Annette, Zimprich Fritz, Brücke Thomas, Poewe Werner, Auff Eduard, Trenkwalder Claudia, Rost Burkhard, Ransmayr Gerhard, Winkelmann Juliane, Meitinger Thomas, Strom Tim M
Abstract excerpt
To identify rare causal variants in late-onset Parkinson disease (PD), we investigated an Austrian family with 16 affected individuals by exome sequencing. We found a missense mutation, c.1858G>A (p.Asp620Asn), in the VPS35 gene in all seven affected family members who are alive. By screening additional PD cases, we saw the same variant cosegregating with the disease in an autosomal-dominant mode with high but...
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