Fragile X Premutation Associated Conditions (FXPAC)

Frontiers in Pediatrics

article

Kirsten Johnson¹  Jonathan Herring²  Jörg Richstein³ 

[1] The Fragile X Society, United Kingdom;Faculty of Law, University of Oxford, United Kingdom;Interessengemeinschaft Fragiles-X e.V

关键词: Fragile X;    premutation;    FXTAS;    FXPOI;    FXPAC;   

DOI  :  10.3389/fped.2020.00266

学科分类：社会科学、人文和艺术（综合）

来源: Frontiers

【 摘 要 】

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.

【 授权许可】

CC BY