Article
Three families with Perry syndrome from distinct parts of the world.
Parkinsonism & related disorders - 1 Aug 2014
Tacik Pawel, Fiesel Fabienne C, Fujioka Shinsuke, Ross Owen A, Pretelt Felipe, Castañeda Cardona Camilo, Kidd Alexa, Hlavac Michael, Raizis Anthony, Okun Michael S, Traynor Sharleen, Strongosky Audrey J, Springer Wolfdieter, Wszolek Zbigniew K
Abstract excerpt
OBJECTIVES: Perry syndrome consists of autosomal dominant Parkinsonism, depression, weight loss, and central hypoventilation. Eight mutations in 16 families have been reported: p.F52L, p.G67D, p.G71R, p.G71E, p.G71A, p.T72P, p.Q74P, and p.Y78C located in exon 2 of the dynactin 1 (DCTN1) gene on chromosome 2p13.1. METHODS: Genealogical, clinical, genetic, and functional studies were performed in three kindreds...
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