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

Mario Sabatelli; Serena Lattante; Clémence Fournier; Mathieu Barbier; Agnès Camuzat; Vincent Anquetil; Fabienne Clot; Cécile Cazeneuve; Daisy Rinaldi; Philippe Couratier; Vincent Deramecourt; Serge Belliard; Martine Vercelletto; Sylvie Forlani; Ludmila Jornea; Alexis Brice; Sophie Auriacombe; Frédéric Blanc; Claire Bouteleau-Bretonnière; Mathieu Ceccaldi; Mira Didic; Bruno Dubois; Charles Duyckaerts; Frédérique Etcharry-Bouix; Véronique Golfier; Didier Hannequin; Lucette Lacomblez; Isabelle Le Ber; Richard Levy; Bernard-François Michel; Florence Pasquier; Catherine Thomas-Anterion; Jérémie Pariente; François Sellal; Eve Benchetrit; Hugo Bertin; Anne Bertrand; Anne Bissery; Stéphanie Bombois; Marie-Paule Boncoeur; Pascaline Cassagnaud; Mathieu Chastan; Yaohua Chen; Marie Chupin; Olivier Colliot; Xavier Delbeucq; Christine Delmaire; Emmanuel Gerardin; Claude Hossein-Foucher; Marie-Odile Habert; Géraldine Lautrette; Thibaud Lebouvier; Stéphane Lehéricy; Benjamin Le Toullec; Kelly Martineau; Marie-Anne Mackowiak; Jacques Monteil; Grégory Petyt; Pierre-François Pradat; Assi-Hervé Oya; Adeline Rollin-Sillaire; François Salachas; Sabrina Sayah; David Wallon; Eric Leguern

doi:10.1016/j.neurobiolaging.2018.09.010

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

Mario Sabatelli, Serena Lattante, Clémence Fournier, Mathieu Barbier, Agnès Camuzat, Vincent Anquetil, Fabienne Clot, Cécile Cazeneuve, Daisy Rinaldi, Philippe Couratier, Vincent Deramecourt, Serge Belliard, Martine Vercelletto, Sylvie Forlani, Ludmila Jornea, Alexis Brice, Sophie Auriacombe, Frédéric Blanc, Claire Bouteleau-Bretonnière, Mathieu CeccaldiMira Didic, Bruno Dubois, Charles Duyckaerts, Frédérique Etcharry-Bouix, Véronique Golfier, Didier Hannequin, Lucette Lacomblez, Isabelle Le Ber, Richard Levy, Bernard-François Michel, Florence Pasquier, Catherine Thomas-Anterion, Jérémie Pariente, François Sellal, Eve Benchetrit, Hugo Bertin, Anne Bertrand, Anne Bissery, Stéphanie Bombois, Marie-Paule Boncoeur, Pascaline Cassagnaud, Mathieu Chastan, Yaohua Chen, Marie Chupin, Olivier Colliot, Xavier Delbeucq, Christine Delmaire, Emmanuel Gerardin, Claude Hossein-Foucher, Marie-Odile Habert, Géraldine Lautrette, Thibaud Lebouvier, Stéphane Lehéricy, Benjamin Le Toullec, Kelly Martineau, Marie-Anne Mackowiak, Jacques Monteil, Grégory Petyt, Pierre-François Pradat, Assi-Hervé Oya, Adeline Rollin-Sillaire, François Salachas, Sabrina Sayah, David Wallon, Eric Leguern

Risultato della ricerca: Contributo in rivista › Articolo in rivista

18 Citazioni (Scopus)

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 < 10 e−4 ) but our results suggested that the association was mainly driven by age at collection (p < 10 e−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.

Lingua originale	English
pagine (da-a)	234-234.e8
Rivista	Neurobiology of Aging
Volume	74
DOI	https://doi.org/10.1016/j.neurobiolaging.2018.09.010
Stato di pubblicazione	Pubblicato - 2019

Keywords

Amyotrophic Lateral sclerosis
Anticipation
C9orf72
Frontotemporal dementia
Frontotemporal lobar degeneration
TDP-43

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10.1016/j.neurobiolaging.2018.09.010

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Sabatelli, M., Lattante, S., Fournier, C., Barbier, M., Camuzat, A., Anquetil, V., Clot, F., Cazeneuve, C., Rinaldi, D., Couratier, P., Deramecourt, V., Belliard, S., Vercelletto, M., Forlani, S., Jornea, L., Brice, A., Auriacombe, S., Blanc, F., Bouteleau-Bretonnière, C., ... Leguern, E. (2019). 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, 74, 234-234.e8. https://doi.org/10.1016/j.neurobiolaging.2018.09.010

Sabatelli, Mario ; Lattante, Serena ; Fournier, Clémence ; Barbier, Mathieu ; Camuzat, Agnès ; Anquetil, Vincent ; Clot, Fabienne ; Cazeneuve, Cécile ; Rinaldi, Daisy ; Couratier, Philippe ; Deramecourt, Vincent ; Belliard, Serge ; Vercelletto, Martine ; Forlani, Sylvie ; Jornea, Ludmila ; Brice, Alexis ; Auriacombe, Sophie ; Blanc, Frédéric ; Bouteleau-Bretonnière, Claire ; Ceccaldi, Mathieu ; Didic, Mira ; Dubois, Bruno ; Duyckaerts, Charles ; Etcharry-Bouix, Frédérique ; Golfier, Véronique ; Hannequin, Didier ; Lacomblez, Lucette ; Le Ber, Isabelle ; Levy, Richard ; Michel, Bernard-François ; Pasquier, Florence ; Thomas-Anterion, Catherine ; Pariente, Jérémie ; Sellal, François ; Benchetrit, Eve ; Bertin, Hugo ; Bertrand, Anne ; Bissery, Anne ; Bombois, Stéphanie ; Boncoeur, Marie-Paule ; Cassagnaud, Pascaline ; Chastan, Mathieu ; Chen, Yaohua ; Chupin, Marie ; Colliot, Olivier ; Delbeucq, Xavier ; Delmaire, Christine ; Gerardin, Emmanuel ; Hossein-Foucher, Claude ; Habert, Marie-Odile ; Lautrette, Géraldine ; Lebouvier, Thibaud ; Lehéricy, Stéphane ; Le Toullec, Benjamin ; Martineau, Kelly ; Mackowiak, Marie-Anne ; Monteil, Jacques ; Petyt, Grégory ; Pradat, Pierre-François ; Oya, Assi-Hervé ; Rollin-Sillaire, Adeline ; Salachas, François ; Sayah, Sabrina ; Wallon, David ; Leguern, Eric. / Relations between C9orf72 expansion size in blood, age at onset, age at collection and transmission across generations in patients and presymptomatic carriers. In: Neurobiology of Aging. 2019 ; Vol. 74. pagg. 234-234.e8.

@article{b21bc73fe3e94434a898fd4c6c1c5b73,

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

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 < 10 e−4 ) but our results suggested that the association was mainly driven by age at collection (p < 10 e−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.",

keywords = "Amyotrophic Lateral sclerosis, Anticipation, C9orf72, Frontotemporal dementia, Frontotemporal lobar degeneration, TDP-43, Amyotrophic Lateral sclerosis, Anticipation, C9orf72, Frontotemporal dementia, Frontotemporal lobar degeneration, TDP-43",

author = "Mario Sabatelli and Serena Lattante and Cl{\'e}mence Fournier and Mathieu Barbier and Agn{\`e}s Camuzat and Vincent Anquetil and Fabienne Clot and C{\'e}cile Cazeneuve and Daisy Rinaldi and Philippe Couratier and Vincent Deramecourt and Serge Belliard and Martine Vercelletto and Sylvie Forlani and Ludmila Jornea and Alexis Brice and Sophie Auriacombe and Fr{\'e}d{\'e}ric Blanc and Claire Bouteleau-Bretonni{\`e}re and Mathieu Ceccaldi and Mira Didic and Bruno Dubois and Charles Duyckaerts and Fr{\'e}d{\'e}rique Etcharry-Bouix and V{\'e}ronique Golfier and Didier Hannequin and Lucette Lacomblez and {Le Ber}, Isabelle and Richard Levy and Bernard-Fran{\c c}ois Michel and Florence Pasquier and Catherine Thomas-Anterion and J{\'e}r{\'e}mie Pariente and Fran{\c c}ois Sellal and Eve Benchetrit and Hugo Bertin and Anne Bertrand and Anne Bissery and St{\'e}phanie Bombois and Marie-Paule Boncoeur and Pascaline Cassagnaud and Mathieu Chastan and Yaohua Chen and Marie Chupin and Olivier Colliot and Xavier Delbeucq and Christine Delmaire and Emmanuel Gerardin and Claude Hossein-Foucher and Marie-Odile Habert and G{\'e}raldine Lautrette and Thibaud Lebouvier and St{\'e}phane Leh{\'e}ricy and {Le Toullec}, Benjamin and Kelly Martineau and Marie-Anne Mackowiak and Jacques Monteil and Gr{\'e}gory Petyt and Pierre-Fran{\c c}ois Pradat and Assi-Herv{\'e} Oya and Adeline Rollin-Sillaire and Fran{\c c}ois Salachas and Sabrina Sayah and David Wallon and Eric Leguern",

year = "2019",

doi = "10.1016/j.neurobiolaging.2018.09.010",

language = "English",

volume = "74",

pages = "234--234.e8",

journal = "Neurobiology of Aging",

issn = "0197-4580",

publisher = "[New York, NY] : Elsevier, 1980-",

}

Sabatelli, M , Lattante, S, Fournier, C, Barbier, M, Camuzat, A, Anquetil, V, Clot, F, Cazeneuve, C, Rinaldi, D, Couratier, P, Deramecourt, V, Belliard, S, Vercelletto, M, Forlani, S, Jornea, L, Brice, A, Auriacombe, S, Blanc, F, Bouteleau-Bretonnière, C, Ceccaldi, M, Didic, M, Dubois, B, Duyckaerts, C, Etcharry-Bouix, F, Golfier, V, Hannequin, D, Lacomblez, L, Le Ber, I, Levy, R, Michel, B-F, Pasquier, F, Thomas-Anterion, C, Pariente, J, Sellal, F, Benchetrit, E, Bertin, H, Bertrand, A, Bissery, A, Bombois, S, Boncoeur, M-P, Cassagnaud, P, Chastan, M, Chen, Y, Chupin, M, Colliot, O, Delbeucq, X, Delmaire, C, Gerardin, E, Hossein-Foucher, C, Habert, M-O, Lautrette, G, Lebouvier, T, Lehéricy, S, Le Toullec, B, Martineau, K, Mackowiak, M-A, Monteil, J, Petyt, G, Pradat, P-F, Oya, A-H, Rollin-Sillaire, A, Salachas, F, Sayah, S, Wallon, D & Leguern, E 2019, '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, vol. 74, pagg. 234-234.e8. https://doi.org/10.1016/j.neurobiolaging.2018.09.010

Relations between C9orf72 expansion size in blood, age at onset, age at collection and transmission across generations in patients and presymptomatic carriers. / Sabatelli, Mario ; Lattante, Serena; Fournier, Clémence; Barbier, Mathieu; Camuzat, Agnès; Anquetil, Vincent; Clot, Fabienne; Cazeneuve, Cécile; Rinaldi, Daisy; Couratier, Philippe; Deramecourt, Vincent; Belliard, Serge; Vercelletto, Martine; Forlani, Sylvie; Jornea, Ludmila; Brice, Alexis; Auriacombe, Sophie; Blanc, Frédéric; Bouteleau-Bretonnière, Claire; Ceccaldi, Mathieu; Didic, Mira; Dubois, Bruno; Duyckaerts, Charles; Etcharry-Bouix, Frédérique; Golfier, Véronique; Hannequin, Didier; Lacomblez, Lucette; Le Ber, Isabelle; Levy, Richard; Michel, Bernard-François; Pasquier, Florence; Thomas-Anterion, Catherine; Pariente, Jérémie; Sellal, François; Benchetrit, Eve; Bertin, Hugo; Bertrand, Anne; Bissery, Anne; Bombois, Stéphanie; Boncoeur, Marie-Paule; Cassagnaud, Pascaline; Chastan, Mathieu; Chen, Yaohua; Chupin, Marie; Colliot, Olivier; Delbeucq, Xavier; Delmaire, Christine; Gerardin, Emmanuel; Hossein-Foucher, Claude; Habert, Marie-Odile; Lautrette, Géraldine; Lebouvier, Thibaud; Lehéricy, Stéphane; Le Toullec, Benjamin; Martineau, Kelly; Mackowiak, Marie-Anne; Monteil, Jacques; Petyt, Grégory; Pradat, Pierre-François; Oya, Assi-Hervé; Rollin-Sillaire, Adeline; Salachas, François; Sayah, Sabrina; Wallon, David; Leguern, Eric.

In: Neurobiology of Aging, Vol. 74, 2019, pag. 234-234.e8.

Risultato della ricerca: Contributo in rivista › Articolo in rivista

TY - JOUR

T1 - Relations between C9orf72 expansion size in blood, age at onset, age at collection and transmission across generations in patients and presymptomatic carriers

AU - Sabatelli, Mario

AU - Lattante, Serena

AU - Fournier, Clémence

AU - Barbier, Mathieu

AU - Camuzat, Agnès

AU - Anquetil, Vincent

AU - Clot, Fabienne

AU - Cazeneuve, Cécile

AU - Rinaldi, Daisy

AU - Couratier, Philippe

AU - Deramecourt, Vincent

AU - Belliard, Serge

AU - Vercelletto, Martine

AU - Forlani, Sylvie

AU - Jornea, Ludmila

AU - Brice, Alexis

AU - Auriacombe, Sophie

AU - Blanc, Frédéric

AU - Bouteleau-Bretonnière, Claire

AU - Ceccaldi, Mathieu

AU - Didic, Mira

AU - Dubois, Bruno

AU - Duyckaerts, Charles

AU - Etcharry-Bouix, Frédérique

AU - Golfier, Véronique

AU - Hannequin, Didier

AU - Lacomblez, Lucette

AU - Le Ber, Isabelle

AU - Levy, Richard

AU - Michel, Bernard-François

AU - Pasquier, Florence

AU - Thomas-Anterion, Catherine

AU - Pariente, Jérémie

AU - Sellal, François

AU - Benchetrit, Eve

AU - Bertin, Hugo

AU - Bertrand, Anne

AU - Bissery, Anne

AU - Bombois, Stéphanie

AU - Boncoeur, Marie-Paule

AU - Cassagnaud, Pascaline

AU - Chastan, Mathieu

AU - Chen, Yaohua

AU - Chupin, Marie

AU - Colliot, Olivier

AU - Delbeucq, Xavier

AU - Delmaire, Christine

AU - Gerardin, Emmanuel

AU - Hossein-Foucher, Claude

AU - Habert, Marie-Odile

AU - Lautrette, Géraldine

AU - Lebouvier, Thibaud

AU - Lehéricy, Stéphane

AU - Le Toullec, Benjamin

AU - Martineau, Kelly

AU - Mackowiak, Marie-Anne

AU - Monteil, Jacques

AU - Petyt, Grégory

AU - Pradat, Pierre-François

AU - Oya, Assi-Hervé

AU - Rollin-Sillaire, Adeline

AU - Salachas, François

AU - Sayah, Sabrina

AU - Wallon, David

AU - Leguern, Eric

PY - 2019

Y1 - 2019

N2 - 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 < 10 e−4 ) but our results suggested that the association was mainly driven by age at collection (p < 10 e−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.

AB - 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 < 10 e−4 ) but our results suggested that the association was mainly driven by age at collection (p < 10 e−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.

KW - Amyotrophic Lateral sclerosis

KW - Anticipation

KW - C9orf72

KW - Frontotemporal dementia

KW - Frontotemporal lobar degeneration

KW - TDP-43

KW - Amyotrophic Lateral sclerosis

KW - Anticipation

KW - C9orf72

KW - Frontotemporal dementia

KW - Frontotemporal lobar degeneration

KW - TDP-43

UR - http://hdl.handle.net/10807/139948

UR - http://www.elsevier.com/locate/neuaging

U2 - 10.1016/j.neurobiolaging.2018.09.010

DO - 10.1016/j.neurobiolaging.2018.09.010

M3 - Article

VL - 74

SP - 234-234.e8

JO - Neurobiology of Aging

JF - Neurobiology of Aging

SN - 0197-4580

ER -

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

Abstract

Keywords

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