Fragile X Syndrome

Common Name(s)

Fragile X Syndrome, X-linked mental retardation and macro-orchidism

Fragile X syndrome is a genetic condition involving changes in part of the X chromosome.  This condition causes a range of developmental problems including learning disabilities and cognitive impairment.  It is the most common form of inherited intellectual disability in males and a significant cause of intellectual disability in females.   Fragile X syndrome is caused by a change in the FMR1 gene. Fragile X syndrome is inherited in an X-linked dominant pattern.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Fragile X Syndrome" for support, advocacy or research.

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Arc of the United States

The Arc promotes and protects the human rights of people with intellectual and developmental disabilities and actively supports their full inclusion and participation in the community throughout their lifetimes.

http://www.thearc.org

Last Updated: 1 Nov 2012

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CNS Foundation

CNS Foundation's Mission is Three-fold: - Expedite scientific research to find treatments and cures for the more than 14 million children living with some form of neurological disorder - Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology - Educate the public, and public officials, on the critical importance of funding pediatric neurological disorder research

http://www.cnsfoundation.org

Last Updated: 12 Oct 2013

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FRAXA Research Foundation

Our mission is to support research aimed at finding specific treatments and a cure for Fragile X syndrome, the leading inherited cause of mental impairment.

http://fraxa.org

Last Updated: 12 Dec 2012

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Missouri Family to Family

Missouri Family to Family provides customized information that allows families and individuals about needed resources and supports, navigating the maze of systems and services, as well as options to make their vision for their life possible. MOF2F also offers Sharing Our Strengths, which connects individuals with disabilities and/or their caregivers to a person who is available to listen with an open heart and open mind, offering emotional support, practical information, and/or shared experiences.

http://www.mofamilytofamily.org

Last Updated: 15 Apr 2014

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National Fragile X Foundation

The National Fragile X Foundation unites the Fragile X community to enrich lives through educational & emotional support, promote public & professional awareness, & advance research toward treatments & a cure for Fragile X.

http://www.FragileX.org

Last Updated: 12 Dec 2012

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Rachel's Well

Rachel's Well in an innovative, multi-disciplinary non-profit organization committed to increaseing women's health research and education, particularly around the issues of menstrual health and primary ovarian insufficiency (POI).

www.rachelswell.org

Last Updated: 4 Jun 2013

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The Arc of East Central Iowa

The Arc of East Central Iowa empowers people with intellectual and related disabilities to engage in lifelong opportunities to live, learn, work and play with dignity, freedom and full inclusion in their communities.

http://www.arceci.org

Last Updated: 11 Apr 2013

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The Fragile X Society

To improve the quality of life of all those affected by fragile X syndrome by providing mutual support to fragile X families from those who share and understand their concerns and needs. To provide information to fragile X families about fragile X syndrome and the medical, social, educational and other services available to their children and relatives who are affected by fragile X. To educate and inform the public and professional people about the prevalence and nature of fragile X syndrome in order to raise awareness and understanding of the syndrome and improve the care of all individuals affected by fragile X. To encourage research into all aspects of fragile X through the participation of our family members in fragile X studies and to publicise the results.

http://www.fragilex.org.uk

Last Updated: 15 Feb 2013

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VOR-Speaking up for people with intellectual & developmental disabilities

VOR is a national organization advocating for high quality care and human rights for all people with intellectual and developmental disabilities.

http://www.vor.net

Last Updated: 20 Feb 2013

View Details

 

General Support Organizations

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How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Fragile X Syndrome" for support, advocacy or research.

Logo
Arc of the United States

The Arc promotes and protects the human rights of people with intellectual and developmental disabilities and actively supports their full inclusion and participation in the community throughout their lifetimes.

http://www.thearc.org

Last Updated: 1 Nov 2012

View Details
Logo
CNS Foundation

CNS Foundation's Mission is Three-fold: - Expedite scientific research to find treatments and cures for the more than 14 million children living with some form of neurological disorder - Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology - Educate the public, and public officials, on the critical importance of funding pediatric neurological disorder research

http://www.cnsfoundation.org

Last Updated: 12 Oct 2013

View Details
FRAXA Research Foundation

Our mission is to support research aimed at finding specific treatments and a cure for Fragile X syndrome, the leading inherited cause of mental impairment.

http://fraxa.org

Last Updated: 12 Dec 2012

View Details
Logo
Missouri Family to Family

Missouri Family to Family provides customized information that allows families and individuals about needed resources and supports, navigating the maze of systems and services, as well as options to make their vision for their life possible. MOF2F also offers Sharing Our Strengths, which connects individuals with disabilities and/or their caregivers to a person who is available to listen with an open heart and open mind, offering emotional support, practical information, and/or shared experiences.

http://www.mofamilytofamily.org

Last Updated: 15 Apr 2014

View Details
National Fragile X Foundation

The National Fragile X Foundation unites the Fragile X community to enrich lives through educational & emotional support, promote public & professional awareness, & advance research toward treatments & a cure for Fragile X.

http://www.FragileX.org

Last Updated: 12 Dec 2012

View Details
Rachel's Well

Rachel's Well in an innovative, multi-disciplinary non-profit organization committed to increaseing women's health research and education, particularly around the issues of menstrual health and primary ovarian insufficiency (POI).

www.rachelswell.org

Last Updated: 4 Jun 2013

View Details
The Arc of East Central Iowa

The Arc of East Central Iowa empowers people with intellectual and related disabilities to engage in lifelong opportunities to live, learn, work and play with dignity, freedom and full inclusion in their communities.

http://www.arceci.org

Last Updated: 11 Apr 2013

View Details
The Fragile X Society

To improve the quality of life of all those affected by fragile X syndrome by providing mutual support to fragile X families from those who share and understand their concerns and needs. To provide information to fragile X families about fragile X syndrome and the medical, social, educational and other services available to their children and relatives who are affected by fragile X. To educate and inform the public and professional people about the prevalence and nature of fragile X syndrome in order to raise awareness and understanding of the syndrome and improve the care of all individuals affected by fragile X. To encourage research into all aspects of fragile X through the participation of our family members in fragile X studies and to publicise the results.

http://www.fragilex.org.uk

Last Updated: 15 Feb 2013

View Details
Logo
VOR-Speaking up for people with intellectual & developmental disabilities

VOR is a national organization advocating for high quality care and human rights for all people with intellectual and developmental disabilities.

http://www.vor.net

Last Updated: 20 Feb 2013

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Fragile X Syndrome" returned 315 free, full-text research articles on human participants. First 3 results:

Comprehensive analysis of the transcriptional landscape of the human FMR1 gene reveals two new long noncoding RNAs differentially expressed in Fragile X syndrome and Fragile X-associated tremor/ataxia syndrome.
 

Author(s): Chiara Pastori, Veronica J Peschansky, Deborah Barbouth, Arpit Mehta, Jose P Silva, Claes Wahlestedt

Journal: Hum. Genet.. 2014 Jan;133(1):59-67.

 

The majority of the human genome is transcribed but not translated, giving rise to noncoding RNAs (ncRNAs), including long ncRNAs (lncRNAs, >200 nt) that perform a wide range of functions in gene regulation. The Fragile X mental retardation 1 (FMR1) gene is a microsatellite locus ...

Last Updated: 3 Jan 2014

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Top3β is an RNA topoisomerase that works with fragile X syndrome protein to promote synapse formation.
 

Author(s): Dongyi Xu, Weiping Shen, Rong Guo, Yutong Xue, Wei Peng, Jian Sima, Jay Yang, Alexei Sharov, Subramanya Srikantan, Jiandong Yang, David Fox, Yong Qian, Jennifer L Martindale, Yulan Piao, James Machamer, Samit R Joshi, Subhasis Mohanty, Albert C Shaw, Thomas E Lloyd, Grant W Brown, Minoru S H Ko, Myriam Gorospe, Sige Zou, Weidong Wang

Journal: Nat. Neurosci.. 2013 Sep;16(9):1238-47.

 

Topoisomerases are crucial for solving DNA topological problems, but they have not been linked to RNA metabolism. Here we show that human topoisomerase 3β (Top3β) is an RNA topoisomerase that biochemically and genetically interacts with FMRP, a protein that is deficient in fragile ...

Last Updated: 28 Aug 2013

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A randomized double-blind, placebo-controlled trial of minocycline in children and adolescents with fragile x syndrome.
 

Author(s): Mary Jacena S Leigh, Danh V Nguyen, Yi Mu, Tri I Winarni, Andrea Schneider, Tasleem Chechi, Jonathan Polussa, Paul Doucet, Flora Tassone, Susan M Rivera, David Hessl, Randi J Hagerman

Journal: J Dev Behav Pediatr. 2013 Apr;34(3):147-55.

 

Minocycline rescued synaptic abnormalities and improved behavior in the fragile X mouse model. Previous open-label human studies demonstrated benefits in individuals with fragile X syndrome (FXS); however, its efficacy in patients with FXS has not been assessed in a controlled trial.

Last Updated: 10 Apr 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Fragile X Syndrome" returned 61 free, full-text review articles on human participants. First 3 results:

Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome.
 

Author(s): Randi Hagerman, Paul Hagerman

Journal: Lancet Neurol. 2013 Aug;12(8):786-98.

 

Fragile X syndrome, the most common heritable form of cognitive impairment, is caused by epigenetic silencing of the fragile X (FMR1) gene owing to large expansions (>200 repeats) of a non-coding CGG-repeat element. Smaller, so-called premutation expansions (55-200 repeats) can cause ...

Last Updated: 22 Jul 2013

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Fragile X-associated tremor/ataxia syndrome (FXTAS): pathology and mechanisms.
 

Author(s): Paul Hagerman

Journal: Acta Neuropathol.. 2013 Jul;126(1):1-19.

 

Since its discovery in 2001, our understanding of fragile X-associated tremor/ataxia syndrome (FXTAS) has undergone a remarkable transformation. Initially characterized rather narrowly as an adult-onset movement disorder, the definition of FXTAS is broadening; moreover, the disorder ...

Last Updated: 24 Jun 2013

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[Alzheimer's disease and fragile X syndrome: the Wnt/ß-catenin pathway as a common biological mechanism].
 

Author(s): Mónica Alejandra Rosales-Reynoso, Alejandra Berenice Ochoa-Hernández, Clara Ibet Juárez-Vázquez, Patricio Barros-Núñez

Journal: Rev Neurol. 2012 Nov;55(9):543-8.

 

Various disorders affecting the canonical Wnt/ß-catenin signalling pathway have been related to the activation or inactivation of oncogenes and tumour suppressor genes that give rise to a number of well-defined neoplasias, as well as several genes involved in a growing group of complaints, ...

Last Updated: 31 Oct 2012

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Safety and Efficacy of AFQ056 in Adolescent Patients With Fragile X Syndrome
 

Status: Recruiting

Condition Summary: Fragile X Syndrome

 

Last Updated: 14 Nov 2013

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Last Updated: 14 Jan 2014

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Trial of Sertraline to Treat Children With Fragile X Syndrome
 

Status: Recruiting

Condition Summary: Fragile X Syndrome

 

Last Updated: 5 Apr 2013

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