Perry Disease: Expanding the Genetic Basis

Jarosław Dulski, Shunsuke Koga, Paweł P. Liberski, Emilia J. Sitek, Ankur A. Butala, Jarosław Sławek, Dennis W. Dickson, Zbigniew K. Wszolek

Research output: Contribution to journalArticlepeer-review


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 languageEnglish (US)
Pages (from-to)1136-1142
Number of pages7
JournalMovement Disorders Clinical Practice
Issue number7
StatePublished - Jul 2023


  • DCTN1
  • TDP-43
  • hypoventilation
  • parkinsonism
  • weight loss

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology


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