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Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies.

Kun-Rodrigues, Celia; Ross, Owen A; Orme, Tatiana; Shepherd, Claire; Parkkinen, Laura; Darwent, Lee; Hernandez, Dena; Ansorge, Olaf; Clark, Lorraine N; Honig, Lawrence S; Marder, Karen; Lemstra, Afina; Scheltens, Philippe; van der Flier, Wiesje; Louwersheimer, Eva; Holstege, Henne; Rogaeva, Ekaterina; St George-Hyslop, Peter; Londos, Elisabet; Zetterberg, Henrik; Barber, Imelda; Braae, Anne; Brown, Kristelle; Morgan, Kevin; Maetzler, Walter; Berg, Daniela; Troakes, Claire; Al-Sarraj, Safa; Lashley, Tammaryn; Holton, Janice; Compta, Yaroslau; Van Deerlin, Vivianna; Trojanowski, John Q; Serrano, Geidy E; Beach, Thomas G; Clarimon, Jordi; Lleó, Alberto; Morenas-Rodríguez, Estrella; Lesage, Suzanne; Galasko, Douglas; Masliah, Eliezer; Santana, Isabel; Diez, Monica; Pastor, Pau; Tienari, Pentti J; Myllykangas, Liisa; Oinas, Minna; Revesz, Tamas; Lees, Andrew; Boeve, Brad F.

Neurobiol Aging ; 49: 214.e13-214.e15, 2017 01.

Artículo en Inglés | MEDLINE | ID: mdl-27666590

RESUMEN

C9orf72 repeat expansions are a common cause of amyotrophic lateral sclerosis and frontotemporal dementia. To date, no large-scale study of dementia with Lewy bodies (DLB) has been undertaken to assess the role of C9orf72 repeat expansions in the disease. Here, we investigated the prevalence of C9orf72 repeat expansions in a large cohort of DLB cases and identified no pathogenic repeat expansions in neuropathologically or clinically defined cases, showing that C9orf72 repeat expansions are not causally associated with DLB.

Asunto(s)

Proteína C9orf72/genética , Expansión de las Repeticiones de ADN/genética , Estudios de Asociación Genética , Enfermedad por Cuerpos de Lewy/genética , Estudios de Cohortes , Humanos

RESUMEN

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