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

RAN translation at CGG repeats induces ubiquitin proteasome system impairment in models of fragile X-associated tremor ataxia syndrome.
 

Author(s): Seok Yoon Oh, Fang He, Amy Krans, Michelle Frazer, J Paul Taylor, Henry L Paulson, Peter K Todd

Journal: Hum. Mol. Genet.. 2015 Aug;24(15):4317-26.

 

Fragile X-associated tremor ataxia syndrome (FXTAS) is a neurodegenerative disorder caused by a CGG trinucleotide repeat expansion in the 5' UTR of the Fragile X gene, FMR1. FXTAS is thought to arise primarily from an RNA gain-of-function toxicity mechanism. However, recent studies ...

Last Updated: 7 Jul 2015

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Dysregulated iron metabolism in the choroid plexus in fragile X-associated tremor/ataxia syndrome.
 

Author(s): Jeanelle Ariza, Craig Steward, Flora Rueckert, Matt Widdison, Robert Coffman, Atiyeh Afjei, Stephen C Noctor, Randi Hagerman, Paul Hagerman, Verónica Martínez-Cerdeño

Journal: Brain Res.. 2015 Feb;1598():88-96.

 

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder associated with premutation alleles of the FMR1 gene that is characterized by progressive action tremor, gait ataxia, and cognitive decline. Recent studies of mitochondrial dysfunction in ...

Last Updated: 24 Feb 2015

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Concomitant fragile X-associated tremor ataxia syndrome and Parkinson's disease: a clinicopathological report of two cases.
 

Author(s): Eduardo De Pablo-Fernandez, Karen M Doherty, Janice L Holton, Tamas Revesz, Atbin Djamshidian, Patricia Limousin, Kailash P Bhatia, Thomas T Warner, Andrew J Lees, Helen Ling

Journal: J. Neurol. Neurosurg. Psychiatr.. 2015 Aug;86(8):934-6.

 

Last Updated: 16 Jul 2015

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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 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
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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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