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.