What type of study is this?

This is a Human Clinical Trial study (also classified as: Pre-Registered Trial).

December 1, 2025Open Access

Quantifying multimodal longitudinal brain changes in presymptomatic C9orf72 disease

Key Points

Longitudinal brain changes showed significant declines in gray matter and white matter volumes in presymptomatic C9orf72 carriers.
The annualized rate of change in putamen volume was four-fold higher in carriers over 40, indicating a critical period for intervention.
Quantitative magnetic resonance imaging was utilized to assess structural brain changes, highlighting the putamen and insula as key regions.
These findings suggest potential biomarkers for monitoring progression in presymptomatic stages of neurodegenerative diseases.

Abstract

Abstract INTRODUCTION The presymptomatic phase of frontotemporal dementia and amyotrophic lateral sclerosis associated with C 9orf72 repeat expansion features widespread structural brain changes. We aimed at fulfilling the unmet need of quantitative magnetic resonance imaging (MRI)‐derived measures suitable for disease tracking. METHODS We compared the profile of longitudinal gray (GM) and white matter (WM) changes in 66 presymptomatic carriers and 52 controls over 3‐year follow‐up and appraised their annualized rate of change (ARC). RESULTS Both putamen ( p 40) participants. We proposed targeted annualized rate of change as a quantitative biomarker.

Quantifying multimodal longitudinal brain changes in presymptomatic C9orf72 disease

Key Points

Abstract

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