Perry Disease: Expanding the Genetic Basis.

Abstract

Perry disease (or Perry syndrome [PS]) is a hereditary neurodegenerative disorder inevitably leading to death within few years from onset. All previous cases with pathological confirmation were caused by mutations within the cytoskeleton-associated protein glycine-rich (CAP-Gly) domain of the DCTN1 gene. This paper presents the first clinicopathological report of PS due to a novel DCTN1 mutation outside the CAP-Gly domain. Clinical and pathological features of the new variant carrier are compared with another recently deceased PS case with a well-known pathogenic DCTN1 mutation and other reported cases. We report a novel DCTN1 mutation outside the CAP-Gly domain that we demonstrated to be pathogenic based on clinical and autopsy findings.