Radhia Kacher, François-Xavier Lejeune, Isabelle David, Susana Boluda, Giulia Coarelli, Sabrina Leclere-Turbant, Anna Heinzmann, Cecilia Marelli, Perrine Charles, Cyril Goizet, Nisha Kabir, Rania Hilab, Ludmila Jornea, Julie Six, Marc Dommergues, Anne-Laure Fauret, Alexis Brice, Sandrine Humbert, Alexandra Durr
Expanded CAG repeats in coding regions of different genes are the most common cause of dominantly inherited spinocerebellar ataxias (SCAs). These repeats are unstable through the germline, and larger repeats lead to earlier onset. We measured somatic expansion in blood samples collected from 30 SCA1, 50 SCA2, 74 SCA3, and 30 SCA7 individuals over a mean interval of 8.5 years, along with postmortem tissues and fetal tissues from SCA1, SCA3, and SCA7 individuals to examine somatic expansion at different stages of life...
April 9, 2024: American Journal of Human Genetics