An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14

(The American Journal of Human Genetics 110, 105–119; January 5, 2023) After publication of this article, the autosomal-dominant adult-onset ataxia the authors preliminarily called SCA50 was officially named SCA27B by OMIM. The title and text have now been updated to reflect this name change. An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14Rafehi et al.The American Journal of Human GeneticsDecember 8, 2022In BriefPathogenic repeat expansions (RE) cause an array of neurogenetic disorders including cerebellar ataxia. While traditionally difficult to identify, new genomic tools and bioinformatic analyses are enabling rapid RE discovery and diagnosis. Here we characterize SCA27B, an adult-onset ataxia caused by a pathogenic GAA repeat expansion within intron one of FGF14. Full-Text PDF