LRP10 genetic variants in familial Parkinson’s disease and dementia with Lewy bodies: a genome-wide linkage and sequencing study
The Lancet Neurology
Fecha de publicación: 07 June 2018
DOI: https://doi.org/10.1016/S1474-4422(18)30179-0
Autores: Marialuisa Quadri, PhD*, Wim Mandemakers, PhD*, Martyna M Grochowska, BSc†, Roy Masius, MSc†, Hanneke Geut, MD†, Edito Fabrizio, MD, Guido J Breedveld, BSc, Demy Kuipers, BSc, Michelle Minneboo, BSc, Leonie J M Vergouw, MD, Ana Carreras Mascaro, BSc, Ekaterina Yonova-Doing, PhD, Erik Simons, BSc, Tianna Zhao, PhD, Alessio B Di Fonzo, PhD, Hsiu-Chen Chang, MSc, Piero Parchi, MD, Marta Melis, MD, Leonor Correia Guedes, MD, Chiara Criscuolo, MD, Prof Astrid Thomas, MD, Rutger W W Brouwer, PhD, Daphne Heijsman, MSc, Angela M T Ingrassia, MSc, Giovanna Calandra Buonaura, PhD, Janneke P Rood, MD, Sabina Capellari, MD, Prof Annemieke J Rozemuller, MD, Marianna Sarchioto, MD, Hsin Fen Chien, PhD, Nicola Vanacore, PhD, Simone Olgiati, PhD, Yah-Huei Wu-Chou, PhD, Tu-Hsueh Yeh, MD, Agnita J W Boon, PhD, Susanne E Hoogers, MD, Mehrnaz Ghazvini, PhD, Arne S IJpma, PhD, Wilfred F J van IJcken, PhD, Prof Marco Onofrj, MD, Prof Paolo Barone, MD, David J Nicholl, FRCP, Andreas Puschmann, MD, Michele De Mari, MD, Anneke J Kievit, PhD, Egberto Barbosa, MD, Prof Giuseppe De Michele, MD, Danielle Majoor-Krakauer, MD, Prof John C van Swieten, MD, Frank J de Jong, MD, Joaquim J Ferreira, PhD, Giovanni Cossu, MD, Prof Chin-Song Lu, MD, Giuseppe Meco, MD, Prof Pietro Cortelli, MD, Wilma D J van de Berg, PhD, Prof Vincenzo Bonifati.
Background: Most patients with Parkinson’s disease, Parkinson’s disease dementia, and dementia with Lewy bodies do not carry mutations in known disease-causing genes. The aim of this study was to identify a novel gene implicated in the development of these disorders.