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: 10 Feb 2015

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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: 10 Feb 2015

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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 46 free, full-text research articles on human participants. First 3 results:

Novel Blood Biomarkers Are Associated with White Matter Lesions in Fragile X- Associated Tremor/Ataxia Syndrome.
 

Author(s): Danuta Z Loesch, Sarah J Annesley, Nicholas Trost, Minh Q Bui, Sui T Lay, Elsdon Storey, Shawn W De Piazza, Oana Sanislav, Lisa M Francione, Eleanor M Hammersley, Flora Tassone, David Francis, Paul R Fisher

Journal: Neurodegener Dis. 2017 ;17(1):22-30.

 

The need for accessible cellular biomarkers of neurodegeneration in carriers of the fragile X mental retardation 1 (FMR1) premutation (PM) alleles.

Last Updated: 7 Sep 2016

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Fragile X-associated tremor/ataxia syndrome: another phenotype of the fragile X gene.
 

Author(s): David Hessl, Jim Grigsby

Journal: Clin Neuropsychol. 2016 Aug;30(6):810-4.

 

Neuropsychologists have an important role in evaluating patients with fragile X-associated disorders, but most practitioners are unaware of the recently identified neurodegenerative movement disorder known as fragile X-associated tremor ataxia syndrome (FXTAS). The objective of this ...

Last Updated: 15 Jul 2016

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Small Molecule Recognition and Tools to Study Modulation of r(CGG)(exp) in Fragile X-Associated Tremor Ataxia Syndrome.
 

Author(s): Wang-Yong Yang, Fang He, Rita L Strack, Seok Yoon Oh, Michelle Frazer, Samie R Jaffrey, Peter K Todd, Matthew D Disney

Journal: ACS Chem. Biol.. 2016 Sep;11(9):2456-65.

 

RNA transcripts containing expanded nucleotide repeats cause many incurable diseases via various mechanisms. One such disorder, fragile X-associated tremor ataxia syndrome (FXTAS), is caused by a noncoding r(CGG) repeat expansion (r(CGG)(exp)) that (i) sequesters proteins involved ...

Last Updated: 16 Sep 2016

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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 10 free, full-text review articles on human participants. First 3 results:

What has been learned from mouse models of the Fragile X Premutation and Fragile X-associated tremor/ataxia syndrome?
 

Author(s): Molly M Foote, Milo Careaga, Robert F Berman

Journal: Clin Neuropsychol. 2016 Aug;30(6):960-72.

 

To describe in this review how research using mouse models developed to study the Fragile X premutation (PM) and Fragile X-associated tremor/ataxia syndrome (FXTAS) have contributed to understanding these disorders. PM carriers bear an expanded CGG trinucleotide repeat on the Fragile ...

Last Updated: 15 Jul 2016

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Fragile X-associated tremor/ataxia syndrome.
 

Author(s): Paul J Hagerman, Randi J Hagerman

Journal: Ann. N. Y. Acad. Sci.. 2015 Mar;1338():58-70.

 

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder that affects some but not all carriers of small, noncoding CGG-repeat expansions (55-200 repeats; premutation) within the fragile X gene (FMR1). Principal features of FXTAS include intention ...

Last Updated: 17 Mar 2015

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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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Clinical Trial Information This information is provided by ClinicalTrials.gov

Brain Network Activation and Gait and Posture in FXTAS
 

Status: Recruiting

Condition Summary: Fragile X Associated Tremor-ataxia Syndrome; FXTAS

 

Last Updated: 7 Aug 2017

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