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FMR1 premutation

Edited by: Paul Hagerman, Randi Hagerman, and Flora Tassone

 An article collection in Journal of Neurodevelopmental Disorders

Although the core clinical symptoms of fragile X syndrome have been well characterized and generally accepted, our understanding of the clinical issues relating to carriers of premutation forms of the gene are continuing to evolve. Over the past several years there has been increasing recognition of the large spectrum of clinical involvement.

This series of research and review articles stems from the International Conference on the FMR1 premutation which was held in Italy in June of 2013, during which many scientists came together and presented their perspectives and experiences on the subject of the premutation. Thus, this thematic issue highlights the basis for the spectrum of clinical involvement, from neurodevelopmental problems in infancy/childhood to mid-adult disorders, (including FXPOI and psychiatric disorders) and to the late-adult neurodegenerative disorder (FXTAS). Our hope is that the presented articles will stimulate further investigation with the ultimate goal of yielding novel insights on the FMR1-associated disorders, leading to targeted therapeutic approaches for premutation-associated disorders.

This collection of articles has not been sponsored and articles have undergone the journal's standard peer-review process overseen by the Editor-in-Chief and Associate Editors. The Editor-in-Chief and Associate Editors declare no competing interests.

View all article collections published in Journal of Neurodevelopmental Disorders

  1. Content type: Review

    Fragile X-associated primary ovarian insufficiency (FXPOI) is among the family of disorders caused by the expansion of a CGG repeat sequence in the 5' untranslated region of the X-linked gene FMR1. About 20% of w...

    Authors: Stephanie L Sherman, Eliza C Curnow, Charles A Easley, Peng Jin, Renate K Hukema, Maria Isabel Tejada, Rob Willemsen and Karen Usdin

    Citation: Journal of Neurodevelopmental Disorders 2014 6:26

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  2. Content type: Review

    The fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder affecting a subset of carriers of the FMR1 (fragile X mental retardation 1) premutation. Penetrance and expressio...

    Authors: Jim Grigsby, Kim Cornish, Darren Hocking, Claudine Kraan, John M Olichney, Susan M Rivera, Andrea Schneider, Stephanie Sherman, Jun Yi Wang and Jin-Chen Yang

    Citation: Journal of Neurodevelopmental Disorders 2014 6:28

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  3. Content type: Review

    Changes in the fragile X mental retardation 1 gene (FMR1) have been associated with specific phenotypes, most specifically those of fragile X syndrome (FXS), fragile X tremor/ataxia syndrome (FXTAS), and fragile ...

    Authors: Anne C Wheeler, Donald B Bailey Jr, Elizabeth Berry-Kravis, Jan Greenberg, Molly Losh, Marsha Mailick, Montserrat Milà, John M Olichney, Laia Rodriguez-Revenga, Stephanie Sherman, Leann Smith, Scott Summers, Jin-Chen Yang and Randi Hagerman

    Citation: Journal of Neurodevelopmental Disorders 2014 6:30

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  4. Content type: Research

    The presence of AGG interruptions in the CGG repeat locus of the fragile X mental retardation 1 (FMR1) gene decreases the instability of the allele during transmission from parent to child, and decreases the risk...

    Authors: Carolyn M Yrigollen, Loreto Martorell, Blythe Durbin-Johnson, Montserrat Naudo, Jordi Genoves, Alessandra Murgia, Roberta Polli, Lili Zhou, Deborah Barbouth, Abigail Rupchock, Brenda Finucane, Gary J Latham, Andrew Hadd, Elizabeth Berry-Kravis and Flora Tassone

    Citation: Journal of Neurodevelopmental Disorders 2014 6:24

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  5. Content type: Review

    This paper summarizes key emerging issues in fragile X-associated tremor/ataxia syndrome (FXTAS) as presented at the First International Conference on the FMR1 Premutation: Basic Mechanisms & Clinical Involvement...

    Authors: Deborah A Hall, Rachael C Birch, Mathieu Anheim, Aia E Jønch, Elizabeth Pintado, Joanne O’Keefe, Julian N Trollor, Glenn T Stebbins, Randi J Hagerman, Stanley Fahn, Elizabeth Berry-Kravis and Maureen A Leehey

    Citation: Journal of Neurodevelopmental Disorders 2014 6:31

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    The Erratum to this article has been published in Journal of Neurodevelopmental Disorders 2015 7:13

  6. Content type: Research

    The FMR1 premutation is defined as having 55 to 200 CGG repeats in the 5′ untranslated region of the fragile X mental retardation 1 gene (FMR1). The clinical involvement has been well characterized for fragile X-...

    Authors: Reymundo Lozano, Randi J Hagerman, Michael Duyzend, Dejan B Budimirovic, Evan E Eichler and Flora Tassone

    Citation: Journal of Neurodevelopmental Disorders 2014 6:27

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  7. Content type: Review

    Carriers of the fragile X premutation (FPM) have CGG trinucleotide repeat expansions of between 55 and 200 in the 5′-UTR of FMR1, compared to a CGG repeat length of between 5 and 54 for the general population. Ca...

    Authors: Robert F Berman, Ronald AM Buijsen, Karen Usdin, Elizabeth Pintado, Frank Kooy, Dalyir Pretto, Isaac N Pessah, David L Nelson, Zachary Zalewski, Nicholas Charlet-Bergeurand, Rob Willemsen and Renate K Hukema

    Citation: Journal of Neurodevelopmental Disorders 2014 6:25

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  8. Content type: Review

    Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset inherited neurodegenerative disorder characterized by intentional tremor, gait ataxia, autonomic dysfunction, and cognitive decline. FXTAS ...

    Authors: Chantal Sellier, Karen Usdin, Chiara Pastori, Veronica J Peschansky, Flora Tassone and Nicolas Charlet-Berguerand

    Citation: Journal of Neurodevelopmental Disorders 2014 6:23

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  9. Content type: Editorial

    Whereas full mutation CGG-repeat expansions (>200 repeats) of the fragile X gene (FMR1) give rise to the neurodevelopmental disorder, fragile X syndrome (FXS); smaller, ‘premutation’ expansions (55 to 200 repeats...

    Authors: Flora Tassone, Paul J Hagerman and Randi J Hagerman

    Citation: Journal of Neurodevelopmental Disorders 2014 6:22

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