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Refining translational treatment development in fragile X syndrome: Lessons learned and future directions

New Content ItemFragile X research has been very productive since the underlying genetic cause of the disease was discovered, with many studies reporting novel treatments that address neuroanatomical, electrophysiological, and behavioral features in mouse models. However, translating this to humans has proved difficult. Journal of Neurodevelopmental Disorders is proud to publish this thematic series, which examines the research to date and suggests ways to overcome some of the challenges facing Fragile X research.

This series was edited by Professor Craig Erickson (Cincinnati Children's Hospital Medical Center).


  1. Content type: Research

    Existing literature draws links between social attention and socio-behavioural profiles in neurodevelopmental disorders. Fragile X syndrome (FXS) is associated with a known socio-behavioural phenotype of socia...

    Authors: Hayley Crawford, Joanna Moss, Chris Oliver and Deborah Riby

    Citation: Journal of Neurodevelopmental Disorders 2017 9:9

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  2. Content type: Research

    Arbaclofen improved multiple abnormal phenotypes in animal models of fragile X syndrome (FXS) and showed promising results in a phase 2 clinical study. The objective of the study is to determine safety and eff...

    Authors: Elizabeth Berry-Kravis, Randi Hagerman, Jeannie Visootsak, Dejan Budimirovic, Walter E. Kaufmann, Maryann Cherubini, Peter Zarevics, Karen Walton-Bowen, Paul Wang, Mark F. Bear and Randall L. Carpenter

    Citation: Journal of Neurodevelopmental Disorders 2017 9:3

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  3. Content type: Research

    Fragile X Syndrome (FXS) occurs as a result of a silenced fragile X mental retardation 1 gene (FMR1) and subsequent loss of fragile X mental retardation protein (FMRP) expression. Loss of FMRP alters excitatory/i...

    Authors: Tori L. Schaefer, Matthew H. Davenport, Lindsay M. Grainger, Chandler K. Robinson, Anthony T. Earnheart, Melinda S. Stegman, Anna L. Lang, Amy A. Ashworth, Gemma Molinaro, Kimberly M. Huber and Craig A. Erickson

    Citation: Journal of Neurodevelopmental Disorders 2017 9:6

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  4. Content type: Review

    Fragile X syndrome (FXS) has been the neurodevelopmental disorder with the most active translation of preclinical breakthroughs into clinical trials. This process has led to a critical assessment of outcome me...

    Authors: Dejan B. Budimirovic, Elizabeth Berry-Kravis, Craig A. Erickson, Scott S. Hall, David Hessl, Allan L. Reiss, Margaret K. King, Leonard Abbeduto and Walter E. Kaufmann

    Citation: Journal of Neurodevelopmental Disorders 2017 9:14

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  5. Content type: Review

    Our understanding of fragile X syndrome (FXS) pathophysiology continues to improve and numerous potential drug targets have been identified. Yet, current prescribing practices are only symptom-based in order t...

    Authors: Craig A. Erickson, Matthew H. Davenport, Tori L. Schaefer, Logan K. Wink, Ernest V. Pedapati, John A. Sweeney, Sarah E. Fitzpatrick, W. Ted Brown, Dejan Budimirovic, Randi J. Hagerman, David Hessl, Walter E. Kaufmann and Elizabeth Berry-Kravis

    Citation: Journal of Neurodevelopmental Disorders 2017 9:7

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  6. Content type: Research

    Cortical hyperexcitability due to abnormal fast-spiking inhibitory interneuron function has been documented in fmr1 KO mice, a mouse model of the fragile X syndrome which is the most common single gene cause of a...

    Authors: Jun Wang, Lauren E. Ethridge, Matthew W. Mosconi, Stormi P. White, Devin K. Binder, Ernest V. Pedapati, Craig A. Erickson, Matthew J. Byerly and John A. Sweeney

    Citation: Journal of Neurodevelopmental Disorders 2017 9:11

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  7. Content type: Research

    Individuals with Williams syndrome (WS) exhibit an atypical social phenotype termed hypersociability. One theory accounting for hypersociability presumes an atypical function of the amygdala, which processes f...

    Authors: Masahiro Hirai, Yukako Muramatsu, Seiji Mizuno, Naoko Kurahashi, Hirokazu Kurahashi and Miho Nakamura

    Citation: Journal of Neurodevelopmental Disorders 2017 9:8

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