PT  - JOURNAL ARTICLE
AU  - Maxime Montembeault
AU  - Sabrina Sayah
AU  - Daisy Rinaldi
AU  - Benjamin Le Toullec
AU  - Anne Bertrand
AU  - Aurélie Funkiewiez
AU  - Dario Saracino
AU  - Agnès Camuzat
AU  - Philippe Couratier
AU  - Marianne Chouly
AU  - Didier Hannequin
AU  - Carole Aubier-Girard
AU  - Florence Pasquier
AU  - Xavier Delbeuck
AU  - Olivier Colliot
AU  - Bénédicte Batrancourt
AU  - Carole Azuar
AU  - Richard Lévy
AU  - Bruno Dubois
AU  - Isabelle Le Ber
AU  - Raffaella Migliaccio
ED  - ,
TI  - Cognitive inhibition impairments in presymptomatic <em>C9orf72</em> carriers
AID  - 10.1136/jnnp-2019-322242
DP  - 2020 Feb 13
TA  - Journal of Neurology, Neurosurgery & Psychiatry
PG  - jnnp-2019-322242
4099  - http://jnnp.bmj.com/content/early/2020/02/13/jnnp-2019-322242.short
4100  - http://jnnp.bmj.com/content/early/2020/02/13/jnnp-2019-322242.full
AB  - Objective To investigate cognitive inhibition in presymptomatic C9orf72 mutation carriers (C9+) and its associated neuroanatomical correlates.Methods Thirty-eight presymptomatic C9orf72 mutation carriers (C9+, mean age 38.2±8.0 years) and 22 C9− controls from the PREV-DEMALS cohort were included in this study. They underwent a cognitive inhibition assessment with the Hayling Sentence Completion Test (HSCT; time to completion (part B−part A); error score in part B) as well as a 3D MRI.Results C9+ individuals younger than 40 years had higher error scores (part B) but equivalent HSCT time to completion (part B−part A) compared to C9− individuals. C9+ individuals older than 40 years had both higher error scores and longer time to completion. HSCT time to completion significantly predicted the proximity to estimated clinical conversion from presymptomatic to symptomatic phase in C9+ individuals (based on the average age at onset of affected relatives in the family). Anatomically, we found that HSCT time to completion was associated with the integrity of the cerebellum.Conclusion The HSCT represents a good marker of cognitive inhibition impairments in C9+ and of proximity to clinical conversion. This study also highlights the key role of the cerebellum in cognitive inhibition.