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.
A PM was found in 1/3 females tested, and one male referred for FXTAS tested negative.
18] They would be predicted to be at risk of POI and FXTAS, but the exact risk is unclear.
Although there is no specific treatment for FXTAS
, FMR1-associated premature ovarian failure, or the psychiatric and musculoskeletal manifestations of Fragile X premutation, establishing the correct diagnosis might prevent unnecessary additional testing and procedures.
According to Paul Hagerman, "Fundamental research on neuronal function in both human and mouse cultured cells, as well as work in whole animals, will expand our knowledge of the processes that underlie both fragile X syndrome and FXTAS.
FXTAS is one of the most common late-onset, neurodegenerative disorders known to be associated with a single gene.
The award adds to the hope of families touched by FXS, POF, and FXTAS, and confirms that the pace of research is accelerating.
Thus, it is hoped that treatments for FXTAS, Alzheimer's and Parkinson's disease, FXS and autism may flow from the consortium's work.
Nearly 1 in 800 men in the general population carries this premutation in the fragile X gene, and UC Davis research suggests that as many as 30 percent of carriers -- roughly 1 in 3,000 men -- may develop FXTAS later in life.
Additional information about Fragile X and FXTAS is also available at the National Fragile X Foundation (http://fragilex.