Perry Disease: Expanding the Genetic Basis.

Autor: Dulski J; Department of Neurology Mayo Clinic Jacksonville Florida USA.; Division of Neurological and Psychiatric Nursing Faculty of Health Sciences, Medical University of Gdansk Gdansk Poland.; Neurology Department St Adalbert Hospital, Copernicus PL Gdansk Poland., Koga S; Department of Neuroscience Mayo Clinic Jacksonville Florida USA., Liberski PP; Department of Molecular Pathology and Neuropathology Medical University of Lodz Łódź Poland.; Faculty of Health Science, The Mazovian State University in Płock Płock Poland., Sitek EJ; Neurology Department St Adalbert Hospital, Copernicus PL Gdansk Poland.; Laboratory of Clinical Neuropsychology, Neurolinguistics and Neuropsychotherapy, Division of Neurological and Psychiatric Nursing Faculty of Health Sciences, Medical University of Gdansk Gdansk Poland., Butala AA; Neurology, Psychiatry and Behavioral Sciences Johns Hopkins University School of Medicine Baltimore Maryland USA., Sławek J; Division of Neurological and Psychiatric Nursing Faculty of Health Sciences, Medical University of Gdansk Gdansk Poland.; Neurology Department St Adalbert Hospital, Copernicus PL Gdansk Poland., Dickson DW; Department of Neuroscience Mayo Clinic Jacksonville Florida USA., Wszolek ZK; Department of Neurology Mayo Clinic Jacksonville Florida USA.
Jazyk: angličtina
Zdroj: Movement disorders clinical practice [Mov Disord Clin Pract] 2023 Jun 22; Vol. 10 (7), pp. 1136-1142. Date of Electronic Publication: 2023 Jun 22 (Print Publication: 2023).
DOI: 10.1002/mdc3.13764
Abstrakt: 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.
Competing Interests: The authors declare that they have no conflict of interest.
(© 2023 International Parkinson and Movement Disorder Society.)
Databáze: MEDLINE
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