Liane Abrams, MS, CGC
Each day I receive calls and emails from parents, relatives and individuals affected by Fragile X-associated Disorders. Many of the emails and calls include questions about FXTAS (Fragile X-associated tremor ataxia syndrome) and FXPOI (Fragile X-associated primary ovarian insufficiency). Recently, I have received numerous emails regarding the incidence and clinical features of FXTAS in women.
When FXTAS was first described by the Hagerman group in 2001, their first patients were grandfathers of children with Fragile X syndrome and it appeared that only men were affected by FXTAS. Many of these men were misdiagnosed with Parkinson’s disease, Stroke or Alzheimer’s. It was a number of years before we realized that women could get FXTAS, too. This was partly due to the seemingly milder presentation (just like girls with FXS) in women with FXTAS and sometimes their features, such as neuropathy (numbing of the extremities), were thought to be caused by other factors. (For example, neuropathy is a common after effect of chemotherapy).
Initially, it was thought that FXTAS was exceedingly rare in females and the rare reported case was a “fluke”. However, now we know that females can develop FXTAS and can have many of the same medical and neurological problems as males with FXTAS. The incidence of FXTAS in females has been quoted as anywhere from 5 to 8%. As in males, some females will have some of the symptoms but not meet the diagnostic criteria of FXTAS that includes clinical and radiological findings. Female carriers also have a risk for other medical issues like high blood pressure and thyroid disorders.