Gyrification abnormalities in presymptomatic c9orf72 expansion carriers

Eduardo Caverzasi, Giovanni Battistella, Stephanie A. Chu, Howie Rosen, Theodore P. Zanto, Anna Karydas, Wendy Shwe, Giovanni Coppola, Daniel H. Geschwind, Rosa Rademakers, Bruce L. Miller, Maria Luisa Gorno-Tempini, Suzee E. Lee

Research output: Contribution to journalArticle

4 Scopus citations

Abstract

Objective To investigate in-vivo cortical gyrification patterns measured by the local gyrification index (lGI) in presymptomatic c9orf72 expansion carriers compared with healthy controls, and investigate relationships between lGI and cortical thickness, an established morphometric measure of neurodegeneration. Methods We assessed cortical gyrification and thickness patterns in a cohort of 15 presymptomatic c9orf72 expansion carriers (age 43.7 ± 10.2 years, 9 females) compared with 67 (age 42.4 ± 12.4 years, 36 females) age and sex matched healthy controls using the dedicated Freesurfer pipeline. Results Compared with controls, presymptomatic carriers showed significantly lower lGI in left frontal and right parieto-occipital regions. Interestingly, those areas with abnormal gyrification in presymptomatic carriers showed no concomitant cortical thickness abnormality. Overall, for both presymptomatic carriers and healthy controls, gyrification and cortical thickness measures were not correlated, suggesting that gyrification captures a feature distinct from cortical thickness. Conclusions Presymptomatic c9orf72 expansion carriers show regions of abnormally low gyrification as early as their 30s, decades before expected symptom onset. Cortical gyrification represents a novel grey matter metric distinctive from grey matter thickness or volume and detects differences in presymptomatic carriers at an early age.

Original languageEnglish (US)
Pages (from-to)1005-1010
Number of pages6
JournalJournal of Neurology, Neurosurgery and Psychiatry
Volume90
Issue number9
DOIs
StatePublished - Sep 1 2019

ASJC Scopus subject areas

  • Surgery
  • Clinical Neurology
  • Psychiatry and Mental health

Fingerprint Dive into the research topics of 'Gyrification abnormalities in presymptomatic c9orf72 expansion carriers'. Together they form a unique fingerprint.

  • Cite this

    Caverzasi, E., Battistella, G., Chu, S. A., Rosen, H., Zanto, T. P., Karydas, A., Shwe, W., Coppola, G., Geschwind, D. H., Rademakers, R., Miller, B. L., Gorno-Tempini, M. L., & Lee, S. E. (2019). Gyrification abnormalities in presymptomatic c9orf72 expansion carriers. Journal of Neurology, Neurosurgery and Psychiatry, 90(9), 1005-1010. https://doi.org/10.1136/jnnp-2018-320265