دورية أكاديمية

Genetic and phenotypic characterization of Parkinson’s disease at the clinic-wide level

التفاصيل البيبلوغرافية
العنوان: Genetic and phenotypic characterization of Parkinson’s disease at the clinic-wide level
المؤلفون: Thomas F. Tropea, Whitney Hartstone, Noor Amari, Dylan Baum, Jacqueline Rick, Eunran Suh, Hanwen Zhang, Rachel A. Paul, Noah Han, Rebecca Zack, Eliza M. Brody, Isabela Albuja, Justin James, Meredith Spindler, Andres Deik, Whitley W. Aamodt, Nabila Dahodwala, Ali Hamedani, Aaron Lasker, Howard Hurtig, Matthew Stern, Daniel Weintraub, Pavan Vaswani, Allison W. Willis, Andrew Siderowf, Sharon X. Xie, Vivianna Van Deerlin, Alice S. Chen-Plotkin
المصدر: npj Parkinson's Disease, Vol 10, Iss 1, Pp 1-8 (2024)
بيانات النشر: Nature Portfolio, 2024.
سنة النشر: 2024
المجموعة: LCC:Neurology. Diseases of the nervous system
مصطلحات موضوعية: Neurology. Diseases of the nervous system, RC346-429
الوصف: Abstract Observational studies in Parkinson’s disease (PD) deeply characterize relatively small numbers of participants. The Molecular Integration in Neurological Diagnosis Initiative seeks to characterize molecular and clinical features of every PD patient at the University of Pennsylvania (UPenn). The objectives of this study are to determine the feasibility of genetic characterization in PD and assess clinical features by sex and GBA1/LRRK2 status on a clinic-wide scale. All PD patients with clinical visits at the UPenn PD Center between 9/2018 and 12/2022 were eligible. Blood or saliva were collected, and a clinical questionnaire administered. Genotyping at 14 GBA1 and 8 LRRK2 variants was performed. PD symptoms were compared by sex and gene groups. 2063 patients were approached and 1,689 (82%) were enrolled, with 374 (18%) declining to participate. 608 (36%) females were enrolled, 159 (9%) carried a GBA1 variant, and 44 (3%) carried a LRRK2 variant. Compared with males, females across gene groups more frequently reported dystonia (53% vs 46%, p = 0.01) and anxiety (64% vs 55%, p
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 2373-8057
Relation: https://doaj.org/toc/2373-8057
DOI: 10.1038/s41531-024-00690-6
URL الوصول: https://doaj.org/article/1b40d637ebd5495caa965d0b43455e9e
رقم الأكسشن: edsdoj.1b40d637ebd5495caa965d0b43455e9e
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:23738057
DOI:10.1038/s41531-024-00690-6