Breaking New Ground: The Spectrum of Fragile X Disorders in New England Journal of Medicine

Anna De Sonia
Anna De Sonia

We’re thrilled to spotlight a major new review article recently published in the New England Journal of Medicine (NEJM) – The Spectrum of Fragile X Disorders by Randi J. Hagerman and Paul J. Hagerman.

This review, written by UC Davis experts, Dr. Randi Hagerman and Dr. Paul Hagerman, illuminates Fragile X-related conditions and simultaneously calls for greater physician awareness and screening of Fragile X-related conditions.

Why does this matter?

Outside of getting this crucial information into public spaces, the New England Journal of Medicine is one of the world’s most prestigious medical journals, with a rigorous peer-review process and a global audience. Publication here means that the Fragile X community—and physicians, researchers, and policymakers—can’t ignore it.

This review is a sweeping update on the family of Fragile X conditions—from full mutations causing Fragile X syndrome (FXS), to premutation-related conditions like Fragile X-associated tremor/ataxia syndrome (FXTAS) and Fragile X-associated primary ovarian insufficiency (FXPOI).

Check out the full review article here: The Spectrum of Fragile X Disorders – NEJM, July 17, 2025, Vol 393 (3), pp 281–288

Read more about Dr. Randi Hagerman and Dr. Paul Hagerman and this review article here.

About the Author

Anna De Sonia

Anna joined the NFXF team in 2024. She has many years of research experience, starting out as a clinical research coordinator at Rush University Medical Center in Chicago, IL back in 2010. There she worked on a variety of clinical trials in the pediatric neurology division, specializing in Fragile X research.