SummaryShort summary of a recent publication, written by scientific experts.
Published: 11 Jan 2023
New understanding on the genetic origin of late-onset cerebellar ataxia
The FGF14 gene encodes fibroblast growth factor 14. A GAA repeat expansion in this gene with a pathogenic threshold of ≥250 repeats was identified and associated with late-onset cerebellar ataxias (LOCAs; P<0.001).
Association of the GAA repeat expansion with LOCA differed between country populations with the strongest association among French Canadians (61%). Lesser associations were identified in German (18%), Australian (15%), and Indian (10%) index patients.
The authors concluded that the GAA repeat expansion in the FGF14 gene is associated with the development of LOCA, shining light on the previously unknown molecular origin of LOCA.