Show Summary Details
Page of

Fragile X: A Molecular and Treatment Model for Autism Spectrum Disorders 

Fragile X: A Molecular and Treatment Model for Autism Spectrum Disorders
Chapter:
Fragile X: A Molecular and Treatment Model for Autism Spectrum Disorders
Author(s):

Randi J. Hagerman

, Vivien Narcisa

, and Paul J Hagerman

DOI:
10.1093/med/9780195371826.003.0052
Page of

PRINTED FROM OXFORD MEDICINE ONLINE (www.oxfordmedicine.com). © Oxford University Press, 2015. All Rights Reserved. Under the terms of the licence agreement, an individual user may print out a PDF of a single chapter of a title in Oxford Medicine Online for personal use (for details see Privacy Policy).

date: 10 December 2017

Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and autism known. There is an absence or deficiency of FMR1 protein in FXS leading to the upregulation of many proteins and pathways important for other forms of autism. All children with autism spectrum disorders (ASDs) should be tested for mutations in the FMR1 gene and both premutations and full mutations can lead to ASDs. This chapter details the clinical, molecular, and treatment aspects of the association between fragile X mutations and ASD. It discusses the phenotypic features of FXS; involvement in premutation carriers; and neurobiological mechanism leading to targeted treatments in FXS.

Access to the complete content on Oxford Medicine Online requires a subscription or purchase. Public users are able to search the site and view the abstracts for each book and chapter without a subscription.

Please subscribe or login to access full text content.

If you have purchased a print title that contains an access token, please see the token for information about how to register your code.

For questions on access or troubleshooting, please check our FAQs, and if you can't find the answer there, please contact us.