Novel destabilizing Dynactin variant (DCTN1 p.Tyr78His) in patient with Perry syndrome

Perry syndrome (PS), also recognized as Perry disease, is a rare autosomal dominant neurodegenerative disorder featuring midlife-onset atypical parkinsonism, apathy or depression, respiratory failure, and weight loss [1], which is caused by mutations in exon 2 of DCTN1 gene on chromosome 2p13.1. Eight pathogenic missense mutations (c.156T  > G, c.200G > A, c.211G > A, c.212G > A, c.212G > C, c.214A > C, c.221A > C, and c.233A > G, encoding p.F52L, p.G67D, p.G71R, p.G71E, p.G71A, p.T72P, p.Q74P, and p.Y78C, respectively) have been reported to date [1].

Source: Parkinsonism and Related Disorders - June 23, 2020 Category: Neurology Authors: Cierny Marek, Hooshmand Sam, Fee Dominic, Tripathi Swarnendu, Nikita R. Dsouza, La Pean Kirschner Alison, Michael T. Zimmermann, Brennan Ryan Tags: Short communication Source Type: research