학술논문
Genetic and phenotypic characterization of Parkinson’s disease at the clinic-wide level
Document Type
article
Author
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
Source
npj Parkinson's Disease, Vol 10, Iss 1, Pp 1-8 (2024)
Subject
Language
English
ISSN
2373-8057
Abstract
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