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. (ORCID:0000-0003-2891-0340)
- Clot F.
- Cazeneuve C.
- Rinaldi D.
- Couratier P.
- Deramecourt V.
- Sabatelli M. (ORCID:0000-0001-6635-4985)
- Belliard S.
- Vercelletto M.
- Forlani S.
- Jornea L.
- Brice A.
- Auriacombe S.
- Blanc F.
- Bouteleau-Bretonniere 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.
- Lehericy 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.
DOIAbstract
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 ...
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