Article
SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration.
Brain : a journal of neurology - 22 Oct 2021
Barbier Mathieu, Camuzat Agnès, Hachimi Khalid El, Guegan Justine, Rinaldi Daisy, Lattante Serena, Houot Marion, Sánchez-Valle Raquel, Sabatelli Mario, Antonell Anna, Molina-Porcel Laura, Clot Fabienne, Couratier Philippe, van der Ende Emma, van der Zee Julie, Manzoni Claudia, Camu William, Cazeneuve Cécile, Sellal François, Didic Mira, Golfier Véronique, Pasquier Florence, Duyckaerts Charles, Rossi Giacomina, Bruni Amalia C, Alvarez Victoria, Gómez-Tortosa Estrella, de Mendonça Alexandre, Graff Caroline, Masellis Mario, Nacmias Benedetta, Oumoussa Badreddine Mohand, Jornea Ludmila, Forlani Sylvie, Van Deerlin Viviana, Rohrer Jonathan D, Gelpi Ellen, Rademakers Rosa, Van Swieten John, Le Guern Eric, Van Broeckhoven Christine, Ferrari Raffaele, Génin Emmanuelle, Brice Alexis, Le Ber Isabelle
Abstract excerpt
The G4C2-repeat expansion in C9orf72 is the most common cause of frontotemporal dementia and of amyotrophic lateral sclerosis. The variability of age at onset and phenotypic presentations is a hallmark of C9orf72 disease. In this study, we aimed to identify modifying factors of disease onset in C9orf72 carriers using a family-based approach, in pairs of C9orf72 carrier relatives with concordant or discordant age...
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