Fragile X Premutation Associated Conditions (FXPAC)

Abstract

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.

Keywords: FXPAC; FXPOI; FXTAS; Fragile X; premutation.

Figure 1

FXPAC, Fragile X Premutation Associated Conditions; FXTAS, Fragile X-associated Tremor/Ataxia Syndrome; FXPOI, Fragile X-associated Primary Ovarian Insufficiency; FXANC, Fragile X-associated Neuropsychiatric Conditions; FXVAC, Fragile X Various Associated Conditions.