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Research Participant Registry Core

15. Fragile X Associated Disorders (FX TAS and FX POI) Study

Description:

The goal of the project is to discover genes that affect the risk and severity of three fragile X-associated disorders: FXTAS, FXPOI, and seizures in males with FXS. Participation activities vary, but most can be completed from home and do not require travel. This study is being conducted by the Emory University Fragile X Center. It is funded by the National Institute of Child Health and Human Development (NICHD)

Recruiting Info:

This is a project recruiting persons who carry the FX premutation or full mutation and their extended family members (tested or untested). THE SEIZURE STUDY needs individuals with full mutation FXS with and without seizures. THE FXTAS STUDY needs individuals with premutation who have early symptoms of FXTAS and males with premutation with no symptoms of FXTAS before 70 years of age. THE FXPOI STUDY needs females with premutation who experienced menopause before age 40 and females with premuation who experienced menopause after age 50.

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