Relations between C9orf72 expansion size in blood, age at onset, age at collection and transmission across generations in patients and presymptomatic carriers. Fournier, C., Barbier, M., Camuzat, A., Anquetil, V., Lattante, S., Clot, F., Cazeneuve, C., Rinaldi, D., Couratier, P., Deramecourt, V., Sabatelli, M., Belliard, S., Vercelletto, M., Forlani, S., Jornea, L., French Clinical, on FTLD/FTLD-ALS, G. R. N., PREVDEMALS, Groups, F. S., Leguern, E., Brice, A., & Le Ber, I. Neurobiology of Aging, 74:234.e1–234.e8, February, 2019. doi abstract bibtex 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 \textless 10e-4) but our results suggested that the association was mainly driven by age at collection (p \textless 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.
@article{fournier_relations_2019,
title = {Relations between {C9orf72} expansion size in blood, age at onset, age at collection and transmission across generations in patients and presymptomatic carriers},
volume = {74},
issn = {1558-1497},
doi = {10.1016/j.neurobiolaging.2018.09.010},
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 {\textless} 10e-4) but our results suggested that the association was mainly driven by age at collection (p {\textless} 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.},
language = {eng},
journal = {Neurobiology of Aging},
author = {Fournier, Clémence and Barbier, Mathieu and Camuzat, Agnès and Anquetil, Vincent and Lattante, Serena and Clot, Fabienne and Cazeneuve, Cécile and Rinaldi, Daisy and Couratier, Philippe and Deramecourt, Vincent and Sabatelli, Mario and Belliard, Serge and Vercelletto, Martine and Forlani, Sylvie and Jornea, Ludmila and {French Clinical and Genetic Research Network on FTLD/FTLD-ALS} and {PREVDEMALS and FTLD-Exome Study Groups} and Leguern, Eric and Brice, Alexis and Le Ber, Isabelle},
month = feb,
year = {2019},
pmid = {30337192},
keywords = {Aged, Humans, Age of Onset, Female, Male, Middle Aged, Phenotype, Frontotemporal Dementia, Adult, Amyotrophic Lateral Sclerosis, Age Factors, Frontotemporal dementia, Frontotemporal lobar degeneration, C9orf72 Protein, DNA Repeat Expansion, TDP-43, C9orf72, Heterozygote, Amyotrophic Lateral sclerosis, Anticipation, Blood Specimen Collection},
pages = {234.e1--234.e8}
}
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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. 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