دورية أكاديمية
Perry Disease: Expanding the Genetic Basis.
| العنوان: | Perry Disease: Expanding the Genetic Basis. |
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| المؤلفون: | 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. |
| المصدر: | 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). |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Wiley Country of Publication: United States NLM ID: 101630279 Publication Model: eCollection Cited Medium: Internet ISSN: 2330-1619 (Electronic) Linking ISSN: 23301619 NLM ISO Abbreviation: Mov Disord Clin Pract Subsets: PubMed not MEDLINE |
| أسماء مطبوعة: | Original Publication: Hoboken, NJ : Wiley, [2014]- |
| مستخلص: | 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.) |
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| فهرسة مساهمة: | Keywords: DCTN1; TDP‐43; hypoventilation; parkinsonism; weight loss |
| تواريخ الأحداث: | Date Created: 20230721 Latest Revision: 20240623 |
| رمز التحديث: | 20240623 |
| مُعرف محوري في PubMed: | PMC10354621 |
| DOI: | 10.1002/mdc3.13764 |
| PMID: | 37476320 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 2330-1619 |
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| DOI: | 10.1002/mdc3.13764 |