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.

• - The Five Most Common Questions About FXTAS
  December 2007
   
• - NeuroTherapeutics Research Institute Interdisciplinary Post-doctoral Training Program in FXTAS and Fragile X Research
  December 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
   
• - FXTAS: Fragile X-associated Tremor/Ataxia Syndrome Message Board
   
• - 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.
   
• - 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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