Article
Novel destabilizing Dynactin variant (DCTN1 p.Tyr78His) in patient with Perry syndrome.
Parkinsonism & related disorders - 1 Aug 2020
Čierny Marek, Hooshmand Sam I, Fee Dominic, Tripathi Swarnendu, Dsouza Nikita R, La Pean Kirschner Alison, Zimmermann Michael T, Brennan Ryan
Abstract excerpt
INTRODUCTION: Perry syndrome, also recognized as Perry disease, is a rare autosomal dominant disorder characterized by midlife-onset atypical parkinsonism, apathy or depression, respiratory failure and weight loss caused by a mutation in the Dynactin (DCTN1) gene. CASE DESCRIPTION: A fifty-six years-old adopted male presented with atypical parkinsonism with bradykinesia and postural instability, apathy, weight...
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