Fragile X-associated Tremor/Ataxia Syndrome (FXTAS)

"The existence of FXTAS provides us with a powerful new key to understanding the FMR1 gene, and fragile X syndrome."

Carriers of premutation (CGG) expansions of the fragile X gene are generally thought to be spared most of the problems associated with the full mutation; however, a newly identified neurological disorder, involving progressively severe tremor and difficulty with walking and balance, appears to specifically affect some older premutation carriers, generally grandfathers of children with fragile X syndrome. Although this neurological disorder occurs by a completely separate mechanism from fragile X syndrome—and affects different individuals, it is caused by the same gene, and therefore opens a new portal for understanding how the fragile X gene works.

For a free brochure:
Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)
An Introduction for Individuals, Families and Providers

http://www.fragilex.org/html/pamphletorder.htm

FXTAS Symptoms and Diagnosis
 
FXTAS usually develops between the ages of 50-80. Symptoms that family members may notice, but often attribute to aging, include:
 
* "Intention" tremors -- shaking that often occurs when reaching for or pouring something
* Balance problems (ataxia) that cause falling or instability while walking
* Numbness in the extremities (neuropathy)
* Mood instability, irritability, and other changes in personality
* Short-term memory loss and gradual intellectual decline
 
The diagnosis is based on 3 factors:
1) Positive carrier testing for the FMR1 premutation,
2) A neurological exam that affirms the above characteristics, and
3) Magnetic Resonance Imaging (MRI) findings that are known to be related to FXTAS, including white matter changes or decreased size of the brain.
 
Individuals with FXTAS are often misdiagnosed with other conditions including Parkinson's, Alzheimer's, dementia, stroke, and peripheral neuropathy. Anyone experienceing any of the sumptoms described above should contac their physician and request a referral to a neurologist.
 
Some neurologists may not yet be aware of this newly described condition. Please contact Treatment@FragileX.org for more information

Additional Information:

You might consider bringing a copy of one of these articles to your doctor.

• - Fragile X–Associated Tremor/Ataxia Syndrome:An Aging Face of the Fragile X Gene (2008)
   
• - Treatment of fragile X-associated tremor ataxia syndrome (FXTAS) and related neurological problems (2008)
   
• - Expanded Clinical Phenotype of Women With the FMR1 Premutation (2008)
   
• - The Five Most Common Questions About FXTAS (2007)
   
• - NeuroTherapeutics Research Institute Interdisciplinary Post-doctoral Training Program in FXTAS and Fragile X Research (2007)
   
• - FXTAS Q&A
   
• - Fragile X-associated Tremor/Ataxia Syndrome (FXTAS)
   
• - Understanding FXTAS: Causes, Symptoms, Diagnosis, Research
   
• - The ABCs- and Xs-of FXTAS Genetics
   
• - Diagram
   
• - Click here to see video of patient attempt at drawing a spiral; left and right hands.
  
  
• - Click here to see video showing balance and gait problems
  
  
• - UC Davis M.I.N.D. Institute Press Release: January 27, 2004
   
• - Fragile X's Unwelcome Relative
   
• - The Identification of FXTAS in Rare Carrier Females
   
• - Fragile X Premutation Tremor/Ataxia Syndrome: Molecular, Clinical, and Neuroimaging Correlates 2003)
   
• - IBM Unveils Mouse Adapter That Assists Hand-Tremor Sufferers
  
  
  PLEASE NOTE: The following articles are technical in nature and written primarily for medical and scientific professionals.
   
• - Reduced Hippocampal Activation During Recall is Associated with Elevated FMR1 mRNA and Psychiatric Symptoms in Men with the Fragile X Premutation (2008)
   
• - Abnormal Nerve Conduction Features in Fragile X Premutation Carriers (2008)
   
• - A Quantitative Assessment of Tremor and Ataxia in FMR1 Premutation Carriers Using CATSYS (2008)
   
• - Clinical and Neuropathologic Findings in a Woman With the FMR1 Premutation and Multiple Sclerosis (2008)
   
• - Fragile X-Associated Tremor/Ataxia Syndrome: Clinical Features, Genetics, and Testing Guidelines
   
• - FMR1 CGG repeat length predicts motor dysfunction in premutation carriers.
   
• - Electrophysiologic screening for FXTAS using CATSYS 2000 (2006)
   
• - Psychiatric Phenotype of the Fragile X-associated Tremor/Ataxia Syndrome (FXTAS) in Males: Newly Described Fronto-Subcortical Dementia (2006)
   
• - Neuropathology of fragile X-associated tremor/ataxia syndrome (2006)
   
• - Protein composition of the intranuclear inclusions of FXTAS (2006)
   
• - FXTAS: A Progressive Neurologic Syndrome Associated with Fragile X Premutation (2005)
   
• - Induction of inclusion formation and disruption of lamin A/C structure by premutation CGG-repeat RNA in human cultured neural cells (2005)
   
• - Initial diagnoses given to persons with the fragile X associated tremor/ataxia syndrome. (2005)
   
• - Neural progenitor cells from an adult patient with fragile X syndrome (2005)
   
• - Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndrome (2004)
   
• - Neural progenitor cells from an adult patient with fragile X syndrome (2004)
   
• - The Fragile-X Premutation: A Maturing Perspective (2004)
  American Journal of Human Genetics
   
• - Penetrance of the Fragile X-Associated Tremor/Ataxia Syndrome in a Premutation Carrier Population
   (2004)
  Journal of the American Medical Association (JAMA)
   
• - Fragile X Premutation Tremor/Ataxia Syndrome: Molecular, Clinical, and Neuroimaging Correlates 2003)
   
• - The Fragile X Premutation Presenting As Essential Tremor (2003)
   
• - The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome. (2003)
   
• - RNA-Mediated Neurodegeneration Caused by the Fragile X Premutation rCGG Repeats in Drosophila (2003)
   
• - Fragile X Premutation Carriers: Characteristic MR Imaging Findings of Adult Male Patients with Progressive Cerebellar and Cognitive
  Dysfunction (2002)
   
• - Neuronal intranuclear inclusions in a new cellebellar tremor/ataxia syndrome among fragile X carriers (2002)
   
• - Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X (2001)

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