Skip to main content
PMC home page
American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 2023 Jun 1;110(6):1018. doi: 10.1016/j.ajhg.2023.05.005

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

Haloom Rafehi, Justin Read, David J Szmulewicz, Kayli C Davies, Penny Snell, Liam G Fearnley, Liam Scott, Mirja Thomsen, Greta Gillies, Kate Pope, Mark F Bennett, Jacob E Munro, Kathie J Ngo, Luke Chen, Mathew J Wallis, Ernest G Butler, Kishore R Kumar, Kathy HC Wu, Susan E Tomlinson, Stephen Tisch, Abhishek Malhotra, Matthew Lee-Archer, Egor Dolzhenko, Michael A Eberle, Leslie J Roberts, Brent L Fogel, Norbert Brüggemann, Katja Lohmann, Martin B Delatycki, Melanie Bahlo ∗, Paul J Lockhart ∗∗
PMCID: PMC10257192  PMID: 37267898

(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.

Contributor Information

Melanie Bahlo, Email: bahlo@wehi.edu.au.

Paul J. Lockhart, Email: paul.lockhart@mcri.edu.au.

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

RESOURCES