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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 Mario Sabatelli 4 Sylvie Forlani 1 Ludmila Jornea 1 Eric Leguern 3, 1 Alexis Brice 1 Sophie Auriacombe 6 Serge Belliard 7 Frédéric Blanc 8 Claire Bouteleau-Bretonnière 9 Mathieu Ceccaldi 10 Mira Didic 10 Charles Duyckaerts 1 Frédérique Etcharry-Bouix 11 Véronique Golfier 7 Lucette Lacomblez 1 Bernard-François Michel 12 Catherine Thomas-Antérion 8 Jérémie Pariente 13 François Sellal 14 Martine Vercelletto 15 Eve Benchetrit 16 Hugo Bertin 17 Anne Bertrand 3 Anne Bissery 3 Stéphanie Bombois 18 Marie-Paule Boncoeur 19, 20 Pascaline Cassagnaud 18 Mathieu Chastan 21 Yaohua Chen 18 Marie Chupin 17 Olivier Colliot 22 Philippe Couratier 19, 23 Xavier Delbeucq 18 Vincent Deramecourt 18 Christine Delmaire 24 Emmanuel Gérardin 25 Claude Hossein-Foucher 26 Bruno Dubois 1 Marie Habert 1 Didier Hannequin 27 Géraldine Lautrette 23 Thibaud Lebouvier 28 Isabelle Le Ber 1 Stéphane Lehéricy 1 Benjamin Le Toullec 29 Richard Lévy 3 Martine Martineau 1 Anne Mackowiak 18 Jacques Monteil 30 Florence Pasquier 18 Grégory Petyt 18 François Pradat 3 Assi-Hervé Oya 3 Daisy Rinaldi 1 Adeline Rollin-Sillaire 31 François Salachas 3 Sabrina Sayah 1 David Wallon 27
22 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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https://hal-unilim.archives-ouvertes.fr/hal-02025976
Contributeur : Elisabeth Grelier <>
Soumis le : mercredi 20 février 2019 - 09:15:58
Dernière modification le : mercredi 23 septembre 2020 - 17:07:27

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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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