부산대학교 도서관

Background: 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. Objectives: This paper presents the first clinicopathological report of PS due to a novel DCTN1 mutation outside the CAP‐Gly domain. Methods: 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. Results and Conclusions: We report a novel DCTN1 mutation outside the CAP‐Gly domain that we demonstrated to be pathogenic based on clinical and autopsy findings. [ABSTRACT FROM AUTHOR]