Fragile X Premutation Associated Conditions (FXPAC)

• Main Authors: Kirsten Johnson, Jonathan Herring, Jörg Richstein
• Format: Article
• Language: English
• Published: Frontiers Media S.A. 2020-05-01
• Series: Frontiers in Pediatrics
• Subjects: Fragile X; premutation; FXTAS; FXPOI; FXPAC
• Online Access: https://www.frontiersin.org/article/10.3389/fped.2020.00266/full

The European Fragile X Network (EFXN) proposes that Fragile X Premutation Associated Conditions (FXPAC) be adopted as a universal term covering any condition linked to the Fragile X premutation. To date, there has not been an umbrella term assigned to issues associated with the FMR1 premutation, though several defined conditions which affect some premutation carriers, namely Fragile X-associated Primary Ovarian Insufficiency (FXPOI) and Fragile X-associated Tremor/Ataxia Syndrome (FXTAS), are now commonly accepted. An overarching term covering all FX premutation conditions will help doctors in determining how the premutation might be affecting their patient; and encourage researchers to explore the interrelationships of the various conditions affecting premutation carriers. Further, there are ongoing discoveries about physical and psychological issues faced by premutation carriers, and a new term helps encompass all of these burgeoning developments.