History of FXTAS

FXTAS was first described in five grandfathers of children with fragile X syndrome in 2001 by Dr. Randi Hagerman and her colleagues at the MIND Institute, University of California, Davis. These men were generally healthy until the onset of the FXTAS-related symptoms.

For a few years prior to the first report, Dr. Hagerman and other Fragile X experts had been noticing a pattern of grandfathers of children with fragile X syndrome diagnosed with:

  • Parkinson’s disease
  • Alzheimer’s disease
  • Various “ataxias” (balance problems)
  • Tremors (shakiness of the hands)
  • Other neurological conditions

Sometimes these men accompanied their grandchildren to the clinic where their symptoms were noticed, or it was reported when the family was giving family health histories.

Eventually, magnetic resonance imaging (MRI) exams were obtained on these men, and similar findings were noted among them. This information linked together:

  • Their symptoms
  • Their genetic markers (the FMR1 premutation) and
  • The MRI changes in their brains.

Based on this data and a great deal of scientific consultation, Dr. Hagerman and her team introduced the term “FXTAS” in 2003. Though it initially included only male carriers over the age of 50, females were later also found to have features of FXTAS, though the symptoms are usually milder and the condition is not seen as often.

Within a short time, individuals with no family history of Fragile X were being diagnosed with FXTAS at various medical clinics. These were FMR1 premutation carriers who did not have known family members with fragile X syndrome, and may not have known they carried the FMR1 premutation.