Somatic instability of the FGF14-SCA27B GAA·TTC repeat reveals a marked expansion bias in the cerebellum
David Pellerin, Jean‐Loup Méreaux, Susana Boluda, Matt Christopher Danzi, Marie‐Josée Dicaire, Claire-Sophie Davoine, David Genı́s, Guinevere Spurdens, Catherine Ashton, J. W. Hammond, Brandon J. Gerhart, Viorica Chelban, Phuong Uyen Le, Maryam Safisamghabadi, Christopher Yanick, , Bernard Brais
This study examines somatic instability of the FGF14 GAA·TTC repeat in SCA27B, finding a cerebellar-specific expansion bias and increased instability in cerebellar regions compared to other brain areas.
Brain · Oct 7, 2024Peer-reviewedGenetic & Genomic Medicine