A coding CAG repeat expansion in EP400 causes Spinocerebellar Ataxia
Stijn V. Weckesser, Nataša Mišković, Mirja Thomsen, Marius Möller, Andona Milovanović, Frauke Hinrichs, Max Borsche, Andreas Dalski, Ana L. de Almeida Marcelino, Soren Franzenburg, Vladimir Kostić, Nikola D. Kresojević, Shen-Yang Lim, Sebastian Loens, Ana Marjanović, , Katja Lohmann
This study identifies a CAG repeat expansion in EP400 as a novel cause of spinocerebellar ataxia in Serbian patients, with an inverse correlation between repeat number and age at onset.
medRxiv · Oct 21, 2026 · PreprintGenetic & Genomic Medicine