Fragile X-Associated Tremor Ataxia Syndrome

Common Name(s)

Fragile X-Associated Tremor Ataxia Syndrome, Fragile X tremor/ataxia syndrome

{21:Jacquemont et al. (2007)} provided a review of fragile X syndrome, which they characterized as a neurodevelopmental disorder, and FXTAS, which they characterized as a neurodegenerative disorder. {2:Amiri et al. (2008)} provided a review of FXTAS and noted that the pathogenesis of the disorder is distinct from that in fragile X syndrome. FXTAS results form a toxic gain of function of FMR1 RNA, whereas fragile X syndrome results from a loss of FMR1 function. The penetrance of FXTAS in male carriers aged 50 years and over, ascertained through families with a fragile X syndrome proband, is at least 33% ({12:Hagerman and Hagerman, 2004}); its penetrance in female carriers is approximately 5-10% ({11:Greco et al., 2008}).
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

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.

Last Updated: 12 Dec 2012

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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.

Last Updated: 15 Feb 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

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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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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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-Associated Tremor Ataxia Syndrome" returned 27 free, full-text research articles on human participants. First 3 results:

Reduced excitatory amino acid transporter 1 and metabotropic glutamate receptor 5 expression in the cerebellum of fragile X mental retardation gene 1 premutation carriers with fragile X-associated tremor/ataxia syndrome.
 

Author(s): Dalyir I Pretto, Madhur Kumar, Zhengyu Cao, Christopher L Cunningham, Blythe Durbin-Johnson, Lihong Qi, Robert Berman, Stephen C Noctor, Randi J Hagerman, Isaac N Pessah, Flora Tassone

Journal: Neurobiol. Aging. 2014 May;35(5):1189-97.

 

A premutation (PM) expansion (55-200 CGG) in the fragile X mental retardation gene 1 causes elevated messenger RNA and reduced fragile X mental retardation gene 1 protein. Young PM carriers can develop characteristic physical features and mild cognitive disabilities. In addition, ...

Last Updated: 10 Feb 2014

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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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Fragile X-associated tremor/ataxia syndrome: influence of the FMR1 gene on motor fiber tracts in males with normal and premutation alleles.
 

Author(s): Jun Yi Wang, David Hessl, Andrea Schneider, Flora Tassone, Randi J Hagerman, Susan M Rivera

Journal: JAMA Neurol. 2013 Aug;70(8):1022-9.

 

Individuals with the fragile X premutation express expanded CGG repeats (repeats 55-200) in the FMR1 gene and elevated FMR1 messenger RNA (mRNA) levels, both of which may underlie the occurrence of the late-onset neurodegenerative disorder fragile X-associated tremor/ataxia syndrome ...

Last Updated: 13 Aug 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-Associated Tremor Ataxia Syndrome" returned 7 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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RNA-mediated neurodegeneration in fragile X-associated tremor/ataxia syndrome.
 

Author(s): Yujing Li, Peng Jin

Journal: Brain Res.. 2012 Jun;1462():112-7.

 

Carriers of fragile X syndrome (FXS) have FMR1 alleles, called premutations, with a number of 5'-untranslated-CGG repeats somewhere between patients, who have over 200 repeats, and normal individuals, with fewer than 60 repeats. Fragile X-associated tremor/ataxia syndrome (FXTAS), ...

Last Updated: 11 Jun 2012

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Citocoline for Treatment of FXTAS
 

Status: Not yet recruiting

Condition Summary: Balance and Cognitive Deficits in Fragile X-associated Tremor Ataxia Syndrome

 

Last Updated: 18 Jul 2014

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Memantine Treatment in Fragile X-Associated Tremor/Ataxia Syndrome
 

Status: Recruiting

Condition Summary: Fragile X-Associated Tremor/Ataxia Syndrome; Fragile X Premutation Carriers

 

Last Updated: 25 Jun 2010

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