Gray matter changes in asymptomatic C9orf72 and GRN mutation carriers

NeuroImage. Clinical
Karteek PopuriGing-Yuek R Hsiung

Abstract

Frontotemporal dementia (FTD) is a neurodegenerative disease with a strong genetic basis. Understanding the structural brain changes during pre-symptomatic stages may allow for earlier diagnosis of patients suffering from FTD; therefore, we investigated asymptomatic members of FTD families with mutations in C9orf72 and granulin (GRN) genes. Clinically asymptomatic subjects from families with C9orf72 mutation (15 mutation carriers, C9orf72+; and 23 non-carriers, C9orf72-) and GRN mutations (9 mutation carriers, GRN+; and 15 non-carriers, GRN-) underwent structural neuroimaging (MRI). Cortical thickness and subcortical gray matter volumes were calculated using FreeSurfer. Group differences were evaluated, correcting for age, sex and years to mean age of disease onset within the subject's family. Mean age of C9orf72+ and C9orf72- were 42.6 ± 11.3 and 49.7 ± 15.5 years, respectively; while GRN+ and GRN- groups were 50.1 ± 8.7 and 53.2 ± 11.2 years respectively. The C9orf72+ group exhibited cortical thinning in the temporal, parietal and frontal regions, as well as reduced volumes of bilateral thalamus and left caudate compared to the entire group of mutation non-carriers (NC: C9orf72- and GRN- combined). In contrast, the GRN+ group...Continue Reading

Citations

Oct 26, 2018·Journal of Neurology, Neurosurgery, and Psychiatry·Junhao WenUNKNOWN Predict to Prevent Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis (PREV-DEMALS) Study Group
Jun 10, 2019·Annals of Neurology·Giorgia QuerinUNKNOWN Predict to Prevent Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis Study Group
Feb 15, 2020·Journal of Neurology, Neurosurgery, and Psychiatry·Maxime MontembeaultUNKNOWN PrevDemAls study group
Apr 15, 2020·Annals of Neurology·Gabriella Le BlancUNKNOWN Genetic Frontotemporal Dementia Initiative (GENFI)
Jul 12, 2019·Frontiers in Neuroscience·Kasper KatiskoEino Solje
Nov 23, 2019·Journal of Psychiatry and Brain Science·Lei WangUNKNOWN Alzheimer’s Disease Neuroimaging Initiative
Sep 6, 2020·Neurobiology of Disease·Suvi HäkkinenSuzee E Lee
May 29, 2021·NeuroImage. Clinical·Karteek PopuriGing-Yuek R Hsiung

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Software Mentioned

SurfStat
MATLAB
FreeSurfer
GENFI

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