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

Calcium dysregulation and Cdk5-ATM pathway involved in a mouse model of fragile X-associated tremor/ataxia syndrome.
 

Author(s): Gaëlle Robin, José R López, Glenda M Espinal, Susan Hulsizer, Paul J Hagerman, Isaac N Pessah

Journal: Hum. Mol. Genet.. 2017 07;26(14):2649-2666.

 

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurological disorder that affects premutation carriers with 55-200 CGG-expansion repeats (preCGG) in FMR1, presenting with early alterations in neuronal network formation and function that precede neurodegeneration. Whether ...

Last Updated: 31 Dec 1969

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Iron accumulation and dysregulation in the putamen in fragile X-associated tremor/ataxia syndrome.
 

Author(s): Jeanelle Ariza, Hailee Rogers, Anna Hartvigsen, Melissa Snell, Michael Dill, Derek Judd, Paul Hagerman, Verónica Martínez-Cerdeño

Journal: Mov. Disord.. 2017 04;32(4):585-591.

 

Fragile X-associated tremor/ataxia syndrome is an adult-onset disorder associated with premutation alleles of the FMR1 gene. This disorder is characterized by progressive action tremor, gait ataxia, and cognitive decline. Fragile X-associated tremor/ataxia syndrome pathology includes ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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

Fragile X-associated tremor/ataxia syndrome.
 

Author(s): Gry Hoem, Jeanette Koht

Journal:

 

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a hereditary neurodegenerative disorder caused by a mutation on the X chromosome. The major signs and symptoms are tremor, ataxia and parkinsonism. Up to one in 2 000 persons over 50 years of age will develop the syndrome. There ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) Motor Dysfunction Modeled in Mice.
 

Author(s): Molly Foote, Gloria Arque, Robert F Berman, Mónica Santos

Journal: Cerebellum. 2016 10;15(5):611-22.

 

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder that affects some carriers of the fragile X premutation (PM). In PM carriers, there is a moderate expansion of a CGG trinucleotide sequence (55-200 repeats) in the fragile X gene (FMR1) ...

Last Updated: 31 Dec 1969

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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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