Using global team science to identify genetic parkinson's disease worldwide

Alberto Albanese, Eva-Juliane Vollstedt, Meike Kasten, Christine Klein, Jan Aasly, Charles Adler, Azlina Ahmad-Annuar, Roy N. Alcalay, Bashayer Al-Mubarak, Victoria Alvarez, Brennie Andree-Muñoz, Grazia Annesi, Silke Appel-Cresswell, David Arkadir, Sebastian Armasu, Thomas R. Barber, Soraya Bardien, Melinda Barkhuizen, Matthew J. Barrett, A. Nazlı BaşakThomas Beach, Bruno A. Benitez, Daniela Berg, Kailash Bhatia, Ferdinand Binkofski, Cornelis Blauwendraat, Vincenzo Bonifati, Vanderci Borges, Maria Bozi, Alexis Brice, Laura Brighina, Kathrin Brockmann, Thomas Brücke, Norbert Brüggemann, Marta Camacho, Francisco Cardoso, Andrea Carmine Belin, Jonathan Carr, Piu Chan, Jorge Chang-Castello, Bruce Chase, Alice Chen-Plotkin, Sun Ju Chung, Roberto Cilia, Jordi Clarimon, Lorraine Clark, Mario Cornejo-Olivas, Jean-Christophe Corvol, Carlos Cosentino, Patrick Cras, David Crosiers, Joana Damásio, Parimal Das, Patricia De Carvalho Aguiar, Giuseppe De Michele, Anna De Rosa, Elena Dieguez, Jolanta Dorszewska, Sevda Erer, Sibel Ertan, Matthew Farrer, Ekaterina Fedotova, Rosangela Ferese, Carlo Ferrarese, Henrique Ferraz, Ondrej Fiala, Tatiana Foroud, Andrzej Friedman, Roberta Frigerio, Manabu Funayama, Stefano Gambardella, Gaetan Garraux, Emilia M. Gatto, Gençer Genç, Nir Giladi, Stefano Goldwurm, Juan Carlos Gomez-Esteban, Pilar Gómez-Garre, Ana Gorostidi, Donald Grosset, Hasmet Hanagasi, John Hardy, Anhar Hassan, Nobutaka Hattori, Robert A. Hauser, Peter Hedera, Faycal Hentati, Jens Michael Hertz, Janice L. Holton, Henry Houlden, Mara H. Hutz, Takeshi Ikeuchi, Sergey Illarioshkin, Miguel Inca-Martinez, Jon Infante, Joseph Jankovic, Beom Seok Jeon, Silvia Jesús, Marlene Jimenez-Del-Rio, Valtteri Kaasinen, Meike Kasten, Hiroshi Kataoka, Hideshi Kawakami, Yun Joong Kim, Christine Klein, Péter Klivényi, Sulev Koks, Inke R. König, Vladimir Kostić, Dariusz Koziorowski, Rejko Krüger, Anna Krygowska-Wajs, Jaime Kulisevsky, Dongbing Lai, Anthony Lang, Mark Ledoux, Suzanne Lesage, Shen-Yang Lim, Chin-Hsien Lin

Risultato della ricerca: Contributo in rivistaArticolo in rivistapeer review

9 Citazioni (Scopus)

Abstract

Talks on rare diseases in the field of neurology often start with a statement like this: “About 80% of all rare diseases have a neurologic manifestation and about 80% of those are genetic in origin.” Although these numbers probably represent more of an estimate than well-documented evidence, rapidly advancing and cost-effective sequencing technologies have led to the quickly growing identification of patients with hereditary neurological diseases. Although the importance of genetics for diagnosis and genetic counseling is undisputed, the recent development of first genetargeted therapies entering clinical trial1,2 is adding an important new layer to the (re-)consideration of genetic testing in neurology. However, establishing accurate genotype– phenotype and genotype–treatment relationships requires large sample sizes. Systematic reviews can serve as instruments to combine information from several small samples, but unfortunately, this is often complicated by inconsistent and incomplete reporting of clinical and genetic data across studies. Thus, large multicenter approaches are necessary to systematically and uniformly characterize patients with genetic neurologic conditions and to eventually establish sizable clinical trial-ready cohorts.
Lingua originaleEnglish
pagine (da-a)153-157
Numero di pagine5
RivistaAnnals of Neurology
Volume86
DOI
Stato di pubblicazionePubblicato - 2019

Keywords

  • parkinson disease

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