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Relations between C9orf72 expansion size in blood, age at onset, age at collection and transmission across generations in patients and presymptomatic carriers

Clémence Fournier 1 Mathieu Barbier 1 Agnès Camuzat 1, 2 Vincent Anquetil 3, 1 Serena Lattante 4 Fabienne Clot 3 Cécile Cazeneuve 5 Daisy Rinaldi 1 Philippe Couratier 6, 7 Vincent Deramecourt 8 Mario Sabatelli 4 Serge Belliard 9 Martine Vercelletto 10 Sylvie Forlani 1 Ludmila Jornea 1 Eric Leguern 3, 1 Alexis Brice 1 Sophie Auriacombe 11 Frédéric Blanc 12 Claire Bouteleau-Bretonnière 13 Mathieu Ceccaldi 14 Mira Didic 14 Charles Duyckaerts 1 Frédérique Etcharry-Bouix 15 Véronique Golfier 9 Lucette Lacomblez 1 Bernard-François Michel 16 Catherine Thomas-Antérion 12 Jérémie Pariente 17 François Sellal 18 Eve Benchetrit 19 Hugo Bertin 20 Anne Bertrand 3 Anne Bissery 3 Stéphanie Bombois 8 Marie-Paule Boncoeur 6, 21 Pascaline Cassagnaud 8 Mathieu Chastan 22 Yaohua Chen 8 Marie Chupin 20 Olivier Colliot 23 Xavier Delbeucq 8 Christine Delmaire 24 Emmanuel Gérardin 25 Claude Hossein-Foucher 26 Bruno Dubois 1 Marie Habert 1 Didier Hannequin 27 Géraldine Lautrette 7 Thibaud Lebouvier 28 Isabelle Le Ber 1 Stéphane Lehéricy 1 Benjamin Le Toullec 29 Richard Lévy 3 Martine Martineau 1 Anne Mackowiak 8 Jacques Monteil 30 Florence Pasquier 8 Grégory Petyt 8 François Pradat 3 Assi-Hervé Oya 3 Adeline Rollin-Sillaire 31 François Salachas 3 Sabrina Sayah 1 David Wallon 27
23 ARAMIS - Algorithms, models and methods for images and signals of the human brain
SU - Sorbonne Université, Inria de Paris, ICM - Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute
Abstract : A (GGGGCC)n repeat expansion in C9orf72 gene is the major cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). The relations between the repeats size and the age at disease onset (AO) or the clinical phenotype (FTD vs. ALS) were investigated in 125 FTD, ALS, and presymptomatic carriers. Positive correlations were found between repeats number and the AO (p < 10e-4) but our results suggested that the association was mainly driven by age at collection (p < 10e-4). A weaker association was observed with clinical presentation (p = 0.02), which became nonsignificant after adjustment for the age at collection in each group. Importantly, repeats number variably expanded or contracted over time in carriers with multiple blood samples, as well as through generations in parent-offspring pairs, conversely to what occurs in several expansion diseases with anticipation at the molecular level. Finally, this study establishes that measure of repeats number in lymphocytes is not a reliable biomarker predictive of the AO or disease outcome in C9orf72 long expansion carriers.
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Clémence Fournier, Mathieu Barbier, Agnès Camuzat, Vincent Anquetil, Serena Lattante, et al.. Relations between C9orf72 expansion size in blood, age at onset, age at collection and transmission across generations in patients and presymptomatic carriers. Neurobiology of Aging, Elsevier, 2019, 74, pp.234.e1-234.e8. ⟨10.1016/j.neurobiolaging.2018.09.010⟩. ⟨hal-02025976⟩

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