How can we define the presymptomatic C9orf72 disease in 2022? An overview on the current definitions of preclinical and prodromal phases

Ber, Isabelle Le

doi:10.1016/j.neurol.2022.03.007

Cited by 2 publications

(2 citation statements)

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“…However, our findings interestingly echo recent anatomical work in presymptomatic carriers of FTD‐causative mutations where massive atrophy was described in subcortical structures up to 20 years before disease onset 9,10,11,12 . Subcortical atrophy might be more important in C9orf72 carriers than in MAPT or GRN mutation carriers, with a particular vulnerability of the thalamus and to a lesser extent, the amygdala 38 . Our methodological approach to describe the preclinical and prodromal stages of FTD variants at the anatomical level using brain charts is complementary to these articles focusing on morphological brain changes in presymptomatic FTD‐mutation carriers.…”

Section: Discussionsupporting

confidence: 88%

“…9,10,11,12 Subcortical atrophy might be more important in C9orf72 carriers than in MAPT or GRN mutation carriers, with a particular vulnerability of the thalamus and to a lesser extent, the amygdala. 38 Our methodological approach to describe the preclinical and prodromal stages of FTD variants at the anatomical level using brain charts is complementary to these articles focusing on morphological brain changes in presymptomatic FTD-mutation carriers. In these cohorts of genetic FTD, it will be interesting to investigate whether early subcortical atrophy explain the distinct temporal progression patterns of cortical atrophy recently identified using machine-learning (Subtype and Stage Inference, SuStaIn).…”

Section: Discussionmentioning

confidence: 99%

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Anatomical MRI staging of frontotemporal dementia variants

Planche

Mansencal

Manjón

et al. 2023

Alzheimer's & Dementia

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INTRODUCTIONThe three clinical variants of frontotemporal dementia (behavioral variant [bvFTD], semantic dementia, and progressive non‐fluent aphasia [PNFA]) are likely to develop over decades, from the preclinical stage to death.METHODSTo describe the long‐term chronological anatomical progression of FTD variants, we built lifespan brain charts of normal aging and FTD variants by combining 8022 quality‐controlled MRIs from multiple large‐scale data‐bases, including 107 bvFTD, 44 semantic dementia, and 38 PNFA.RESULTSWe report in this manuscript the anatomical MRI staging schemes of the three FTD variants by describing the sequential divergence of volumetric trajectories between normal aging and FTD variants. Subcortical atrophy precedes focal cortical atrophy in specific behavioral and/or language networks, with a “radiological” prodromal phase lasting 8–10 years (time elapsed between the first structural alteration and canonical cortical atrophy).DISCUSSIONAmygdalar and striatal atrophy can be candidate biomarkers for future preclinical/prodromal FTD variants definitions.Highlights We describe the chronological MRI staging of the most affected structures in the three frontotemporal dementia (FTD) syndromic variants. In behavioral variant of FTD (bvFTD): bilateral amygdalar, striatal, and insular atrophy precedes fronto‐temporal atrophy. In semantic dementia: bilateral amygdalar atrophy precedes left temporal and hippocampal atrophy. In progressive non‐fluent aphasia (PNFA): left striatal, insular, and thalamic atrophy precedes opercular atrophy.

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Section: Discussionsupporting

confidence: 88%