• J. Neurol. Neurosurg. Psychiatr. · Apr 2020

    Cognitive inhibition impairments in presymptomatic C9orf72 carriers.

    • Maxime Montembeault, Sabrina Sayah, Daisy Rinaldi, Benjamin Le Toullec, Anne Bertrand, Aurélie Funkiewiez, Dario Saracino, Agnès Camuzat, Philippe Couratier, Marianne Chouly, Didier Hannequin, Carole Aubier-Girard, Florence Pasquier, Xavier Delbeuck, Olivier Colliot, Bénédicte Batrancourt, Carole Azuar, Richard Lévy, Bruno Dubois, Isabelle Le Ber, Raffaella Migliaccio, and PrevDemAls study group.
    • Inserm U1127, Institut du Cerveau, Hôpital Pitié-Salpêtrière, Paris, France.
    • J. Neurol. Neurosurg. Psychiatr. 2020 Apr 1; 91 (4): 366-372.

    ObjectiveTo investigate cognitive inhibition in presymptomatic C9orf72 mutation carriers (C9+) and its associated neuroanatomical correlates.MethodsThirty-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.ResultsC9+ 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.ConclusionThe 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.© Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ.

      Pubmed     Full text   Copy Citation     Plaintext  

      Add institutional full text...

    Notes

     
    Knowledge, pearl, summary or comment to share?
    300 characters remaining
    help        
    You can also include formatting, links, images and footnotes in your notes
    • Simple formatting can be added to notes, such as *italics*, _underline_ or **bold**.
    • Superscript can be denoted by <sup>text</sup> and subscript <sub>text</sub>.
    • Numbered or bulleted lists can be created using either numbered lines 1. 2. 3., hyphens - or asterisks *.
    • Links can be included with: [my link to pubmed](http://pubmed.com)
    • Images can be included with: ![alt text](https://bestmedicaljournal.com/study_graph.jpg "Image Title Text")
    • For footnotes use [^1](This is a footnote.) inline.
    • Or use an inline reference [^1] to refer to a longer footnote elseweher in the document [^1]: This is a long footnote..

    hide…