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 demonstrated to be pathogenic based on clinical and autopsy findings.
Original language | English (US) |
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Pages (from-to) | 1136-1142 |
Number of pages | 7 |
Journal | Movement Disorders Clinical Practice |
Volume | 10 |
Issue number | 7 |
DOIs | |
State | Published - Jul 2023 |
Keywords
- DCTN1
- TDP-43
- hypoventilation
- parkinsonism
- weight loss
ASJC Scopus subject areas
- Neurology
- Clinical Neurology