Parkinson's disease variant detection and disclosure: PD GENEration, a North American study.

doi:10.1093/brain/awae142

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Article

Parkinson's disease variant detection and disclosure: PD GENEration, a North American study.

Brain : a journal of neurology - 1 Aug 2024

Cook Lola, Verbrugge Jennifer, Schwantes-An Tae-Hwi, Schulze Jeanine, Foroud Tatiana, Hall Anne, Marder Karen S, Mata Ignacio F, Mencacci Niccolò E, Nance Martha A, Schwarzschild Michael A, Simuni Tanya, Bressman Susan, Wills Anne-Marie, Fernandez Hubert H, Litvan Irene, Lyons Kelly E, Shill Holly A, Singer Carlos, Tropea Thomas F, Vanegas Arroyave Nora, Carbonell Janfreisy, Cruz Vicioso Rossy, Katus Linn, Quinn Joseph F, Hodges Priscila D, Meng Yan, Strom Samuel P, Blauwendraat Cornelis, Lohmann Katja, Casaceli Cynthia, Rao Shilpa C, Ghosh Galvelis Kamalini, Naito Anna, Beck James C, Alcalay Roy N

Abstract excerpt

Variants in seven genes (LRRK2, GBA1, PRKN, SNCA, PINK1, PARK7 and VPS35) have been formally adjudicated as causal contributors to Parkinson's disease; however, individuals with Parkinson's disease are often unaware of their genetic status since clinical testing is infrequently offered. As a result, genetic information is not incorporated into clinical care, and variant-targeted precision medicine trials struggle...

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PMID: 39074992
DOI: 10.1093/brain/awae142
PMCID: PMC11292896

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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