Somatic instability of the C9orf72 repeat expansion in blood differs between patients with amyotrophic lateral sclerosis or frontotemporal dementia.
Mathieu Barbier, Mounir Ichalalen, Maria del Mar Amador, Julie F. H. De Houwer, EunRan R. Suh, François‐Xavier Lejeune, Théophile Bieth, Cécile Réyès, Emilie Henry, Allyson Hinks, Philippe Martin-Hardy, Daisy Rinaldi, Lara Araktingi, Harro Seelaar, Carole Roué-Jagot, , Isabelle Le Ber
This study uses optical genome mapping to analyze C9orf72 repeat expansion instability in blood from ALS and FTD patients, finding age-dependent differences in repeat size dynamics between conditions.
medRxiv · Oct 7, 2026 · PreprintGenetic & Genomic Medicine