Alessio Di Fonzo, Marco Percetti, Edoardo Monfrini, Ilaria Palmieri, Alberto Albanese, Micol Avenali, Anna Bartoletti-Stella, Fabio Blandini, Gloria Brescia, Giovanna Calandra-Buonaura, Rosa Campopiano, Sabina Capellari, Isabel Colangelo, Giacomo Pietro Comi, Giada Cuconato, Rosangela Ferese, Caterina Galandra, Stefano Gambardella, Barbara Garavaglia, Andrea Gaudio, Emiliano Giardina, Federica Invernizzi, Paola Mandich, Rossana Mineri, Celeste Panteghini, Chiara Reale, Lucia Trevisan, Stefania Zampatti, Pietro Cortelli, Enza Maria Valente
BACKGROUND AND OBJECTIVE: Early-onset Parkinson's disease (EOPD) commonly recognizes a genetic basis; thus, patients with EOPD are often addressed to diagnostic testing based on next-generation sequencing (NGS) of PD-associated multigene panels. However, NGS interpretation can be challenging in a diagnostic setting, and few studies have addressed this issue so far. METHODS: We retrospectively collected data from 648 patients with PD with age at onset younger than 55 years who underwent NGS of a minimal shared panel of 15 PD-related genes, as well as PD-multiplex ligation-dependent probe amplification in eight Italian diagnostic laboratories...
September 26, 2023: Movement Disorders: Official Journal of the Movement Disorder Society