In a study published in the journal Neurology in 2001, a UC Davis MIND Institute team led by Randi Hagerman, Endowed Chair in Fragile X Research, described a new condition, fragile X-associated tremor/ataxia syndrome (FXTAS). This late-onset neurodegenerative disorder is associated with problems of movement, memory and the autonomic nervous system. Hagerman, a physician and MIND Institute medical director, had initially identified FXTAS two years earlier, after seeing patients in her clinical practice. At the same time, fragile X team member Flora Tassone, professor of biochemistry and molecular medicine, discovered that increased activity of the gene FMR1 gene dysregulation was the basis for the disorder. FXTAS is related to fragile X syndrome, the most common known cause of inherited intellectual disability and the leading single-gene cause of autism spectrum disorder. Prior to its discovery, FXTAS often was misdiagnosed as Alzheimer’s disease, Parkinson’s disease or other neurological disorders including neuropathy. Hagerman and Tassone’s current work is focused on finding treatments for FXTAS and facilitating a better understanding of all age-related neurodegenerative processes.
