Welcome to CDC Stacks | Molecular Advances Leading to Treatment Implications for Fragile X Premutation Carriers - 41998 | CDC Public Access
Stacks Logo
Advanced Search
Select up to three search categories and corresponding keywords using the fields to the right. Refer to the Help section for more detailed instructions.
 
 
Help
Clear All Simple Search
Advanced Search
Molecular Advances Leading to Treatment Implications for Fragile X Premutation Carriers
Filetype[PDF - 873.60 KB]


Details:
  • Pubmed ID:
    25436181
  • Pubmed Central ID:
    PMC4245015
  • Description:
    Fragile X syndrome (FXS) is the most common single gene cause of intellectual disability and it is characterized by a CGG expansion of more than 200 repeats in the FMR1 gene, leading to methylation of the promoter and gene silencing. The fragile X premutation, characterized by a 55 to 200 CGG repeat expansion, causes health problems and developmental difficulties in some, but not all, carriers. The premutation causes primary ovarian insufficiency in approximately 20% of females, psychiatric problems (including depression and/or anxiety) in approximately 50% of carriers and a neurodegenerative disorder, the fragile X-associated tremor ataxia syndrome (FXTAS), in approximately 40% of males and 16% of females later in life. Recent clinical studies in premutation carriers have expanded the health problems that may be seen. Advances in the molecular pathogenesis of the premutation have shown significant mitochondrial dysfunction and oxidative stress in neurons which may be amenable to treatment. Here we review the clinical problems of carriers and treatment recommendations.

  • Document Type:
  • Collection(s):
  • Funding:
    R01 HD036071/HD/NICHD NIH HHS/United States
    R01 MH078041/MH/NIMH NIH HHS/United States
    U50 DD000596/DD/NCBDD CDC HHS/United States
No Related Documents.
You May Also Like: