Quantifying multimodal longitudinal brain changes in presymptomatic <i>C9orf72</i> disease

We studied longitudinal multimodal MRI changes in presymptomatic C9orf72 disease. Carriers displayed faster atrophy in putamen, insula and cerebellar regions. Mean diffusivity increased mainly in uncinate and thalamo-cortical tracts. These differences were even more significant in older (> 40) participants. We proposed targeted annualized rate of change as a quantitative biomarker.

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Publication Details

Journal
Alzheimer s & Dementia
Published
2025-12-01
DOI
https://doi.org/10.1002/alz.70902
Primary Topic
Fetal and Pediatric Neurological Disorders
Type
article
Field-Weighted Citation Impact
0.00

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article

Quantifying multimodal longitudinal brain changes in presymptomatic C9orf72 disease

Olivier Colliot, Raffaella Migliaccio, Giorgia Querin, Emilie Gérardin et al.
Alzheimer s & Dementia
Fetal and Pediatric Neurological Disorders
article

Quantifying multimodal longitudinal brain changes in presymptomatic C9orf72 disease

Olivier Colliot, Raffaella Migliaccio, Giorgia Querin, Emilie Gérardin, P. Couratier, Armelle Rametti‐Lacroux, Isabelle Le Ber, Marion Houot, Daisy Rinaldi, Dario Saracino, Lorenzo Cipriano, Thibaud Lebouvier, Pierre‐François Pradat, David Wallon, M.-P. Boncœur
article en

Abstract

We studied longitudinal multimodal MRI changes in presymptomatic C9orf72 disease. Carriers displayed faster atrophy in putamen, insula and cerebellar regions. Mean diffusivity increased mainly in uncinate and thalamo-cortical tracts. These differences were even more significant in older (> 40) participants. We proposed targeted annualized rate of change as a quantitative biomarker.

Alzheimer s & DementiaVol. 21(12)
Centre National de la Recherche Scientifique (FR), Institut national de recherche en sciences et technologies du numérique (FR), Inserm (FR), Université de Lille (FR), Centre Hospitalier Universitaire de Lille (FR), Sorbonne Université (FR), Laboratoire d’Imagerie Biomédicale (FR), Centre Hospitalier Universitaire de Limoges (FR), Pitié-Salpêtrière Hospital (FR), Institut d’Epidémiologie Neurologique et de Neurologie Tropicale (FR), Institut du Cerveau (FR), Centre Hospitalier Universitaire de Rouen (FR), Université de Rouen Normandie (FR)
EU Joint Programme – Neurodegenerative Disease Research, European Commission, Agence Nationale de la Recherche, Direction Générale de l’offre de Soins, HORIZON EUROPE Framework Programme
Openalex Percentile: Top 51%
Fetal and Pediatric Neurological Disorders
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