FXTASFragile X Tremor/Ataxia Syndrome
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Studies of FXTAS have established that the sequestration of RNA-binding proteins due to the expression of pathogenic RNA with expanded repeats is involved in disease pathogenesis (58) (Figure 3).
Brouwer et al., "Expression of the GABAergic system in animal models for fragile X syndrome and fragile X associated tremor/ataxia syndrome (FXTAS)," Brain Research, vol.
FXTAS is a late onset progressive degenerative movement disorder Since the disorder was first found in 2001, the advancement of knowledge of this disorder has occurred very quickly (I).
Por otra parte, existen sindromes y condiciones medicas asociadas al SXF que se manifiestan en portadores de la premutacion entre los cuales se encuentran la depresion, ansiedad, cefalea migranosa, hipertension, apnea del sueno, enfermedades mediadas por el sistema inmune incluyendo hipotiroidismo y fibromialgia, FXTAS y FXPOI que se han descrito en los ultimos 10 anos (11).
Of these, 2 239 unrelated individuals (887 white, 959 black, 211 mixed ancestry and 182 Indian) had a suspected diagnosis of FXS or ID of unknown cause (1 961 males and 278 females), 430 were extended family members referred for FXS carrier or diagnostic testing (mothers of affected individuals, siblings and other at-risk second and third-degree relatives), four requested POI or FXTAS testing, and 17 were prenatal samples (obtained by chorionic villus sampling (CVS) or amniocentesis) from at-risk pregnancies.
Using both fruit fly models and human cells, the U-M researchers found that drugs that inhibit histone acetyltransferases modify the brain changes associated with FXTAS and could provide the pathway to a therapeutic target.
The overall prevalence of FXTAS among men with premutations is estimated at 40% after age 50 years, starting as low as 17% in the 50s and peaking at 75% beyond age 80 years.
Finally, men and women who understand the genetic cause of their FXTAS and POI may be spared the confusion and anxiety that patients often feel when a definitive diagnosis eludes them.
Remembrances to FXTAS Foundation through First Congregational Church of Eugene.
"Fragile X-associated tremor/ataxia syndrome (FXTAS), a condition which affects balance, tremor and memory in some older male gene carriers.
One of the issues that have changed the thinking about genetic testing is the recent discovery of fragile X-associated tremor ataxia syndrome (FXTAS) in individuals with premutation.