Perry Disease: Expanding the Genetic Basis.

ABSTRACT:

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 demonstrat

SUBMITTER: Dulski J 

PROVIDER: S-EPMC10354621 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature