Family history of FXTAS is associated with age-related cognitive-linguistic decline among mothers with the FMR1 premutation.
Jessica KlusekAmanda FairchildCarly MoserMarsha R MailickAngela John ThurmanLeonard AbbedutoPublished in: Journal of neurodevelopmental disorders (2022)
Results suggest that women with the FMR1 premutation who have a family history of FXTAS may be at increased risk for neurodegenerative disease, as indicated by age-related loss of syntactic complexity. Thus, family history of FXTAS may represent a personalized risk factor for age-related disease. Follow-up study is needed to determine whether syntactic decline is an early indicator of FXTAS specifically, as opposed to being a more general age-related cognitive decline associated with the FMR1 premutation.